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Symptoms » Hypoglycemia » Glossary
 

Glossary for Hypoglycemia

Medical terms related to Hypoglycemia or mentioned in this section include:

  • $3-alpha-Hydroxyacyl-CoA Dehydrogenase Deficiency$: A rare inherited form of biochemical disorder characterized by the deficiency of a particular enzyme (3-Hydroxyacyl-CoA Dehydrogenase). The enzyme deficiency only affects certain body tissues, in particular the skeletal muscles. The lack of enzyme activity prevents some fats being converted into energy. Symptoms tend to be exacerbated during fasting as during fasting, the body tries to rely more heavily on fats for energy. Fatty acids that are not completely metabolized due to the enzyme deficiency may build up in various organs and cause serious complications.
  • $3-alpha-hydroxyacyl-coenzyme A dehydrogenase deficiency$: A rare inherited form of biochemical disorder characterized by the deficiency of a particular enzyme (3-Hydroxyacyl-CoA Dehydrogenase). The enzyme deficiency only affects certain body tissues, in particular the skeletal muscles. The lack of enzyme activity prevents some fats being converted into energy. Symptoms tend to be exacerbated during fasting as during fasting, the body tries to rely more heavily on fats for energy. Fatty acids that are not completely metabolized due to the enzyme deficiency may build up in various organs and cause serious complications.
  • $3-methylglutaconic aciduria, type 4$: A rare genetic disorder where the body's cells are unable to make sufficient energy resulting in an accumulation in the body of 3-methylglutaconic acid. Type 4 is characterized by symptoms which overlap type 1 and 3.
  • ACAD9 deficiency: A metabolic disorder involving a deficiency of an enzyme (acyl-CoA dehydrogenase-9). The symptoms are variable and are usually triggered by a viral infection or ingestion of aspirin which can trigger a Reye-like episode which can cause death.
  • ACTH Deficiency: A rare endocrine disorder involving a lack of ACTH (adrenocorticotropic hormone) and low levels of cortisol and steroid hormones.
  • Acetohexamide - Teratogenic Agent: Experimental studies on mice indicate that the use of Acetohexamide during pregnancy may cause death during the embryonic stage.
  • Achalasia - Addisonianism - Alacrimia syndrome: A rare inherited disorder characterized mainly by achalasia, alacrimia (absent tears) and Addison's disease. Addison's disease involves adrenal insufficiency due to a resistance to adrenocorticotropic hormone. Only about 70 cases reported worldwide.
  • Achalasia - addisonianism - alacrima syndrome: A rare inherited disorder characterized mainly by achalasia, alacrimia (absent tears) and Addison's disease. Addison's disease involves adrenal insufficiency due to a resistance to adrenocorticotropic hormone. Only about 70 cases reported worldwide.
  • Acidemia, methylmalonic: An inborn error of metabolism where amino acids in the body aren't metabolized properly resulting in high levels of the acid throughout the body.
  • Acidemia, propionic: An inherited genetic disorder where the body is incapable of processing some proteins and fats resulting in the accumulation of certain substances in the body which causes the symptoms of the condition. The condition can be life threatening.
  • Ackee Fruit Food poisoning: Unripe ackee fruit contains a chemical called hypoglycin A and B which affect the central nervous system and fatty acid oxidation. Eating the unripe fruit can cause symptoms can occur in as little as two hours but is generally 6 to 48 hours. The ackee fruit is found mainly in Jamaica, West Africa, Central America, Sought Florida, southern California and Hawaii.
  • Acute fatty liver of pregnancy: A rare complication of pregnancy that can occur in the second half of the pregnancy. It is characterized by excessive fatty deposits in the liver which can be fatal without prompt diagnosis and treatment which involves delivering the baby as soon as possible.
  • Acute meningitis: Acute meningitis is a form of meningitis caused by bacteria that normally lives in the mouth and throat. When the immune system is unable to supress this bacteria, it travels to the cerebrospinal spinal fluid in the brain. From there it affects the membranes surrounding the brain.
  • Acyl-CoA dehydrogenase, short chain, deficiency of: A rare disorder where the body lacks enzymes needed to convert some fats (short-chain fatty acids) into energy. Symptoms are exacerbated by fasting or acute illness. The severity of symptoms is variable with some patients remaining virtually asymptomatic their whole life while other suffer symptoms from infancy.
  • Adrenal Cancer: A malignant cancer that develops in the adrenal gland. The tumor may be nonfunctioning (does not produce hormones) or functioning in which case excessive levels of hormones can cause a variety of symptoms depending on which hormone is involved. Adrenal hormones made in the cortex (outer part of the gland) are aldosterone, corticosteroids and androgenic steroids. Adrenalin and noradrenalin are the hormones made in the medulla (central part of the adrenal gland).
  • Adrenal Cortex Diseases: Diseases of the adrenal cortex. Examples includes Addison's disease, Cushing's syndrome and adrenal fatigue.
  • Adrenal gland symptoms: Symptoms affecting the adrenal glands
  • Adrenal hypoplasia congenital, X-linked: A genetic disorder which affects the body tissues that produce hormones. It is characterized by underdeveloped adrenal glands which results adrenal insufficiency and hypogonadotrophic hypogonadism.
  • Adverse reaction to chemical - 1,1-Dichloroethene: 1,1-Dichloroethene is a chemical used in packaging, food wraps, carpet backing, adhesives and steel pipe coating. Some people can suffer an adverse reaction to the chemical. The severity of symptoms varies amongst patients.
  • Alcohol - Teratogenic Agent: There is strong evidence to indicate that exposure to Alcohol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Alcohol abuse: Excessive alcohol as a symptom of other conditions
  • Alcoholism: High dependence on excessive amounts of alcohol.
  • Alpers Syndrome: A rare syndrome characterized by liver disease, seizures and progressive, episodic psychomotor retardation.
  • Bacterial meningitis: Bacterial meningitis is a form of meningitis caused by bacteria that normally lives in the mouth and throat. When the immune system is unable to supress this bacteria, it travels to the cerebrospinal spinal fluid in the brain. From there it affects the membranes surrounding the brain.
  • Baker-Winegrad disease: A very rare syndrome caused by a deficiency of the enzyme fructose-1-6-diphosphatase which impairs the body's ability to break down fructose that is consumed in the diet.
  • Breast Cancer: A condition which is characterized by the presence of malignant tissue within breast tissue
  • Breast cancer: A condition which is characterized by the presence of malignant tissue within breast tissue
  • CDG syndrome type 1B: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1B has a phosphomannose isomerase enzyme defect.
  • Carnitine palmitoyl transferase 1 deficiency: A very rare inherited deficiency of a particular enzyme (Carnitine palmitoyl transferase I) prevents fatty acids being transported to the part of the cell that converts it to energy.
  • Carnitine palmitoyl transferase 2 deficiency: A very rare inherited deficiency of a particular enzyme (Carnitine palmitoyl transferase) which prevents fatty acids being transported to the part of the cell that converts it to energy. There are two main subtypes of the disorder with each involving a slightly different form of the enzyme. Type I can be readily managed through diet. Type II has three subtypes: the myopathic form affects mainly the muscles; the hepatocardiomuscular form affects the liver and heart muscle; and the lethal neonatal form affects muscles and organs and usually results in death during the first year of life.
  • Carnitine palmitoyl transferase II deficiency, infantile hepatocardiomuscular type: A very rare metabolic disorder where deficiency of a particular enzyme (CPT II) prevents muscle fats being converted to energy. The infantile form of this disease affects the muscles and the liver and heart.
  • Carnitine palmitoyl transferase deficiency: A very rare inherited deficiency of a particular enzyme (Carnitine palmitoyl transferase) which prevents fatty acids being transported to the part of the cell that converts it to energy. There are two main subtypes of the disorder with each involving a slightly different form of the enzyme. Type I can be readily managed through diet. Type II has three subtypes: the myopathic form affects mainly the muscles; the hepatocardiomuscular form affects the liver and heart muscle; and the lethal neonatal form affects muscles and organs and usually results in death during the first year of life.
  • Carnitine transporter deficiency: An inherited deficiency of carnitine caused by the impaired ability of the carnitine transporter protein to carry the carnitine to where it is needed. Instead the carnitine is excreted through the urine. Fasting or illness can trigger a severe attack.
  • Carnitine-acylcarnitine translocase deficiency: A very rare inherited metabolic disorder where long-chain fatty acids can't be metabolized properly because the compound needed to transport it is faulty. Ultimately this prevents certain fats (long-chain acylcarnitine) being converted to energy and results in a build up of the fat which is harmful to body organs and tissues.
  • Chlorpromazine - Teratogenic Agent: There is evidence to indicate that exposure to Chlorpromazine (a neuroleptic drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Chlorpropamide - Teratogenic Agent: There is evidence to indicate that exposure to Chlorpropamide (an antidiabetic drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Chromosome 15q triplication syndrome: A rare chromosomal disorder where there are three copies of a part of the long arm of chromosome 15 resulting in various anomalies.
  • Chromosome 6, trisomy 6q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 6 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 6q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 6 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Cleft lip palate pituitary deficiency: A very rare disorder characterized by a cleft lip and palate as well as deficient pituitary gland activity which affects hormone levels. The clefts and the pituitary abnormality are considered to be midline defects.
  • Coenzyme Q cytochrome c reductase deficiency of: A rare genetic defect where an enzyme deficiency (CoQ-Cytochrome C reductase) disrupts cellular processes. Any of a variety of the components of the enzyme may be missing or defective and hence the clinical presentation and severity may vary. The deficiency may result in a variety of symptoms and conditions of variable severity such as cardiomyopathy, fatal infant conditions and Leber's myopathy.
  • Congenital Disorders of Glycosylation: Congenital disorders of glycosylation is a group of disorders involving abnormally synthesis of N-linked oligosaccharides. There is a long chain of events involved in the synthesis and defects may occur with any of the compounds or enzymes involved in the process. Progressive impairment and regression of skills often occurs after a period of normal development following birth.
  • Congenital disorder of glycosylation type 1B: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1B has a phosphomannose isomerase enzyme defect.
  • Diabetes-like symptoms: Symptoms similar to those of diabetes
  • Diabetic hypoglycemia: Low blood sugar attack from insulin or diabetes medications
  • Dicarboxylicaminoaciduria: A rare metabolic syndrome involving a defect in the transport of certain amino acids (glutamate, aspartate) and resulting in high levels of dicarboxylic amino acids in the urine. Often no observable symptoms occur.
  • Digestive symptoms: Any symptoms affecting the digestive tract.
  • Dizziness: Feelings of lightheadedness or giddiness.
  • Dopamine beta hydroxylase deficiency: A very rare disorder involving a deficiency of dopamine beta-hydroxylase which affects production of noradrenaline and adrenaline and results in symptoms such as low blood pressure on standing, droopy eyelids and stuffy nose.
  • Dopamine beta-hydroxylase deficiency: A very rare disorder involving a deficiency of dopamine beta-hydroxylase which affects production of noradrenaline and adrenaline and results in symptoms such as low blood pressure on standing, droopy eyelids and stuffy nose.
  • Duplication 6q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 6 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Electron Transfer Flavoprotein, deficiency of: A metabolic disorder involving an enzyme deficiency - electron transfer flavoprotein ubiquinone oxydoreductase. The severity of symptoms depends on the level of deficiency. The infant onset form is the most severe.
  • Endomyocardial fibroelastosis: A rare heart malformation involving an abnormal thickening of the part of the heart muscle called the endocardium which affects the heart's function. Death is common in infancy and during early childhood.
  • Ethanol - Teratogenic Agent: There is evidence to indicate that exposure to Ethanol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Fasting: The action of not eating or drinking usually whilst awaiting a medical procedure
  • Forbes disease: A rare inherited glycogen storage disease caused by a deficiency of the enzyme amylo-1,6-glucosidase resulting in a build up of glycogen in the liver and muscles.
  • Fructose intolerance: An enzyme deficiency that causes toxic symptoms when fructose containing food is ingested.
  • Fructose-1,6-bisphosphatase deficiency, hereditary: A rare inherited condition where an enzyme deficiency (fructose-1,6-bisphosphatase deficiency - FDPase) impairs the body's ability to metabolize fructose from the diet.
  • Functioning pancreatic endocrine tumor: Tumors that develop in the pancreas and cause excessive secretion of one or more pancreatic hormones such as insulin, somatostatin, glucagons, gastrin, ACTH (corticosteroids) and vasoactive intestinal peptidase.
  • Galactosemia: Accumulation of galactose in the blood leading to mental retardation and failure to thrive if not corrected.
  • Galactosemia I: A rare inherited disorder where deficiency of a particular enzyme (galactose-1-phosphate uridyl transferase) prevents the metabolism of galactose which is a sugar component of milk. Ranges from milk intolerance in mild cases to death in severe untreated cases.
  • Glucocorticoid deficiency, familial: A rare inherited disorder where the adrenals don't respond to ACTH resulting in glucocorticoid deficiency.
  • Glutaric Aciduria, neonatal form of type II A: A more serious neonatal form of glutaricaciduria where there is excessive blood and urine levels of glutaric acid and congenital anomalies may be present.
  • Glutaric aciduria 2: A metabolic disorder involving an enzyme deficiency - electron transfer flavoprotein ubiquinone oxydoreductase. The severity of symptoms depends on the level of deficiency. The infant onset form is the most severe and often results in death. Severe cases usually develop during childhood or infancy and usually involve metabolic acidosis and its associated symptoms. Milder cases may simply present with muscle weakness initially that develops in adulthood. Some cases may involve additional symptoms such as heart, liver and kidney problems, facial anomalies and genital abnormalities.
  • Glutaric aciduria type II: A rare disorder of amino acid metabolism characterized by a defect in the enzyme ETF (electron transfer flavenoid) or ETF dehydrogenase. The condition causes variable symptoms.
  • Glutaricaciduria 2B: A milder, later-onset form of glutaricaciduria where there is excessive blood and urine levels of glutaric acid due to the body's impaired ability to metabolize protein and fat into energy.
  • Glycogen Storage Disease Type I: An inherited metabolic disorder where a deficiency of the enzyme glucose-6-phosphatase prevents glycogen being turned into glucose leading to a buildup of glycogen in the liver and kidneys. Most problems tend to develop during adulthood.
  • Glycogen branching deficiency: A rare metabolic disorder where an enzyme deficiency (glycogen branching enzyme) results in a harmful buildup of glycogen byproducts in the liver, muscle and even the heart in some cases. The severity of symptoms is variable depending on the degree of enzyme deficiency and how strictly treatment measures are adhered to.
  • Glycogen debranching deficiency: A rare metabolic disorder where an enzyme deficiency (amylo-1,6-glucosidase) results in a harmful buildup of glycogen byproducts in the liver, muscle and even the heart in some cases. The severity of symptoms is variable depending on the degree of enzyme deficiency and how strictly treatment measures are adhered to.
  • Glycogen storage disease type 1C: A genetic metabolic disorder involving a deficiency of the enzyme glucose-6-phosphatase (due to a defect in the microsomal phosphate) which results in the accumulation of glycogen in various tissues. G6P is stored as glycogen until the body needs to convert it to a sugar for energy. The enzyme deficiency prevents the conversion and hence low blood sugar levels result.
  • Glycogen storage disease type 1D: A genetic metabolic disorder involving a deficiency of the enzyme glucose-6-phosphatase (due to a defect in the microsomal glucose transporter) which results in the accumulation of glycogen in various tissues. G6P is stored as glycogen until the body needs to convert it to a sugar for energy. The enzyme deficiency prevents the conversion and hence low blood sugar levels result.
  • Glycogen storage disease type 6: A rare, generally mild form of inherited glycogen storage disease where a deficiency of phosphorylase b kinase leads to hypoglycemia and accumulation of glycogen in the liver.
  • Glycogen storage disease type 6A, due to phosphorylase kinase deficiency: A rare, generally mild form of inherited glycogen storage disease where a deficiency of phosphorylase kinase leads to hypoglycemia and accumulation of glycogen in the liver. Phosphorylase kinase deficiency can cause glycogen storage disease type VIa and/or IX.
  • Glycogenosis type 8: A mild glycogen storage disease which affects males only and involves a deficiency of the enzyme phosphorylase b-kinase.
  • Growth Hormone Deficiency: A deficiency in growth hormone which results in poor growth.
  • HADH deficiency: A rare inherited form of biochemical disorder characterized by the deficiency of a particular enzyme (3-Hydroxyacyl-CoA Dehydrogenase). The enzyme deficiency only affects certain body tissues, in particular the skeletal muscles. The lack of enzyme activity prevents some fats being converted into energy. Symptoms tend to be exacerbated during fasting as during fasting, the body tries to rely more heavily on fats for energy. Fatty acids that are not completely metabolized due to the enzyme deficiency may build up in various organs and cause serious complications.
  • HMG CoA synthetase deficiency: An inherited metabolic defect due to the deficiency of an enzyme (HMG CoA synthetase) needed to form ketone bodies. Symptoms are often preceded by periods of fasting or illness.
  • HMG-CoA lyase deficiency: A rare inherited metabolic disorder where deficiency of a particular enzyme impairs the processing of amino acids in food to create energy and causes various symptoms. Stresses on the body such as infection, fasting and heavy exercise can trigger an episode.
  • Hepatic failure: loss of normal liver function and metabolism of products by the liver
  • Hepatoma: Hepatocellular carcinoma (HCC) is a primary malignancy of the liver.
  • Herbal Agent adverse reaction - Clove: Clove can be used as a herbal agent that can be used topically for tooth pain or as a local anesthetic in dentistry. The herbal agent can cause an adverse reaction or even anaphylaxis in some people.
  • Herbal Agent adverse reaction - Ginseng: Ginseng can be used as a herbal agent, usually in the form of a tea, to help combat stress. Some people may develop an adverse reaction to Ginseng.
  • Herbal Agent overdose - Ginseng: Ginseng can be used as a herbal agent, usually in the form of a tea, to help combat stress. Excessive doses of ginseng can cause overdose symptoms - 3 to 15 g per day for a number of years can cause overdose symptoms.
  • Hereditary carnitine deficiency: An inherited deficiency of carnitine resulting primarily in muscle problems. Severe symptoms can be triggered by periods of illness or fasting.
  • Hereditary carnitine deficiency syndrome: An inherited deficiency of carnitine resulting primarily in muscle weakness. The carnitine deficiency may be due to excessive loss of insufficient production.
  • Hereditary carnitine deficiency syndrome, systemic: An inherited deficiency of carnitine in tissues other than the muscles resulting primarily in muscle weakness.
  • Histidinuria, renal tubular defect: A very rare syndrome where a kidney defect causes high levels of histidine in the urine.
  • Hyperinsulinemic hypoglycemia, familial, 1: A disorder where too much insulin causes low blood sugar in infants. Prompt treatment is needed to avoid the brain being damaged by repeated periods of low blood sugar. The various types of familial hyperinsulinemic hypoglycemia are distinguished by their genetic origin. HHF1 is due to a mutation in the gene for SUR1 (surfonlyurea receptor 1) on chromosome 11p15.1.
  • Hyperinsulinemic hypoglycemia, familial, 2: A disorder where too much insulin causes low blood sugar in infants. Prompt treatment is needed to avoid the brain being damaged by repeated periods of low blood sugar. The various types of familial hyperinsulinemic hypoglycemia are distinguished by their genetic origin. HHF2 is due to a mutation in the gene for Kir6.2 on chromosome 11p15.1.
  • Hyperinsulinemic hypoglycemia, familial, 3: A disorder where too much insulin causes low blood sugar in infants. Prompt treatment is needed to avoid the brain being damaged by repeated periods of low blood sugar. The various types of familial hyperinsulinemic hypoglycemia are distinguished by their genetic origin. HHF3 is due to a mutation in the gene for glucokinase on chromosome 7p15-p13.
  • Hyperinsulinemic hypoglycemia, familial, 4: A disorder where too much insulin causes low blood sugar in infants. Prompt treatment is needed to avoid the brain being damaged by repeated periods of low blood sugar. The various types of familial hyperinsulinemic hypoglycemia are distinguished by their genetic origin. HHF4 is due to a mutation in the gene for 3-hydroxyacyl-CoA dehydrogenase on chromosome 4q22-q26.
  • Hyperinsulinemic hypoglycemia, familial, 5: A disorder where too much insulin causes low blood sugar in infants. Prompt treatment is needed to avoid the brain being damaged by repeated periods of low blood sugar. The various types of familial hyperinsulinemic hypoglycemia are distinguished by their genetic origin. HHF5 is due to a mutation in the insulin receptor gene on chromosome 19p13.2.
  • Hyperinsulinemic hypoglycemia, familial, 6: A disorder where too much insulin causes low blood sugar in infants. Prompt treatment is needed to avoid the brain being damaged by repeated periods of low blood sugar. The various types of familial hyperinsulinemic hypoglycemia are distinguished by their genetic origin. HHF6 is due to a mutation in the GLUD1 gene on chromosome 10q23.3.
  • Hyperinsulinemic hypoglycemia, familial, 7: A disorder where too much insulin causes low blood sugar in infants. Prompt treatment is needed to avoid the brain being damaged by repeated periods of low blood sugar. The various types of familial hyperinsulinemic hypoglycemia are distinguished by their genetic origin. In HHF7 strenuous exercise causes high insulin and low sugar levels.
  • Hyperinsulinism due to glucokinase deficiency: An inherited condition characterized by high insulin levels due to deficiency of glucokinase. The lack of glucokinase prevents the pancreas from detecting low blood sugar so insulin continues to be secreted which keeps the blood sugar level low. Severe symptoms such as seizures and coma can result if sugar levels drop too low.
  • Hyperinsulinism due to glutamodehydrogenase deficiency: An inherited condition characterized by high insulin and ammonia levels in the blood due to an enzyme deficiency (glutamate dehydrogenase). Episodes of low blood sugar can be triggered by fasting for too long or eating a protein meal. Severe symptoms such as seizures and coma can result if sugar levels drop too low.
  • Hyperinsulinism in children, congenital: A rare inherited condition characterized by high insulin levels which cause low blood sugar. Severe symptoms such as seizures and coma can result if sugar levels drop too low.
  • Hyperinsulinism, diffuse: A rare inherited condition where there are abnormal islet cells spread throughout the pancreas. The islet of Langerhans cells produce insulin which regulates the body's sugar level.
  • Hyperinsulinism, focal: A rare inherited condition where only some of the pancreatic islet cells that produce insulin are abnormal. The prognosis for this form is good as surgical removal of the abnormal pancreatic tissue allows the pancreas to retain normal function.
  • Hypoglycemia: Low blood sugar levels
  • Hypoglycemia with deficiency of glycogen synthetase in the liver: A rare condition where low blood sugar is caused by a deficiency of an enzyme called glycogen synthetase in the liver. Symptoms tend to occur after periods of fasting.
  • Hypoglycemia, leucine-induced: A rare disorder where episodes of low blood sugar occurs after eating a meal which contains the protein leucine.
  • Hypoglycemic attack: Sudden onset of low blood sugar levels
  • Hypoketonemic hypoglycemia: A rare condition usually caused by fatty oxidation defects and involves low blood sugar and low blood ketone level.
  • Hypopituitarism: A condition characterized by diminished hormonal section by the pituitary gland
  • Inborn urea cycle disorder: A genetic disorder involving a deficiency of one of the enzymes needed in the urea cycle. The urea cycle is the process of removing ammonia from blood stream by converting it to urea and excreting it via urine. A build-up of ammonia in the blood is toxic to the body and can cause serious brain damage. The progressively severe symptoms usually become obvious within the first few weeks of birth. Nevertheless, mild or partial enzyme deficiencies may cause little or no symptoms or symptoms that don't start until later in life.
  • Insulin - Teratogenic Agent: There is evidence to indicate that exposure to Insulin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Insulin-resistance type B: A very rare syndrome where insulin resistance is associated with autoimmune disease. The disorder is caused by antibodies which attack the bodies insulin receptors.
  • Insulinoma: A rare form of pancreatic cancer that causes excessive secretion of the hormone insulin. A relatively small number of cases are malignant.
  • Jacobsen syndrome: A very rare chromosomal disorder involving the absence of a portion of chromosome 11q. The range and severity of symptoms is determined by the size of the portion that is deleted.
  • Jamaican vomiting sickness: A fatal reaction to eating unripe ackee fruit.
  • L-3-alpha-hydroxyacyl-CoA dehydrogenase, short chain, deficiency: A rare inherited form of biochemical disorder characterized by the deficiency of a particular enzyme (3-Hydroxyacyl-CoA Dehydrogenase). The enzyme deficiency only affects certain body tissues, in particular the skeletal muscles. The lack of enzyme activity prevents some fats being converted into energy. Symptoms tend to be exacerbated during fasting as during fasting, the body tries to rely more heavily on fats for energy. Fatty acids that are not completely metabolized due to the enzyme deficiency may build up in various organs and cause serious complications.
  • LADHSC deficiency: A rare inherited form of biochemical disorder characterized by the deficiency of a particular enzyme (3-Hydroxyacyl-CoA Dehydrogenase). The enzyme deficiency only affects certain body tissues, in particular the skeletal muscles. The lack of enzyme activity prevents some fats being converted into energy. Symptoms tend to be exacerbated during fasting as during fasting, the body tries to rely more heavily on fats for energy. Fatty acids that are not completely metabolized due to the enzyme deficiency may build up in various organs and cause serious complications.
  • Laron Dwarfism: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
  • Leprechaunism: A very rare genetic disorder characterized by insulin resistance which leads to growth delay and endocrine system abnormalities.
  • Leucinosis: A term used to describe high levels of leucine in the body. It is associated with a metabolic disorder called maple syrup urine disease where there is a deficiency of an enzyme needed to break down leucine so it builds up within the body.
  • Lipoamide dehydrogenase deficiency: A very rare enzyme deficiency (dihydrolipoamide dehydrogenase) which can cause lactic acidosis. The age of onset and symptoms are variable.
  • Liver conditions: Any condition that affects the liver
  • Liver failure: When the liver fails to function
  • Liver symptoms: Symptoms affecting the liver
  • Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency: A rare inherited genetic condition where the body is unable to convert certain fats to energy i.e. there is not enough of a certain enzyme (3-hydroxyacyl-coenzyme A dehydrogenase) which is needed to metabolize a type of fat called long-chain fatty acids. The build-up of these fatty acids in the body causes damage.
  • Low blood sugar: A decrease in the glucose levels of the blood above normal
  • M/SCHAD deficiency: A rare inherited form of biochemical disorder characterized by the deficiency of a particular enzyme (3-Hydroxyacyl-CoA Dehydrogenase). The enzyme deficiency only affects certain body tissues, in particular the skeletal muscles. The lack of enzyme activity prevents some fats being converted into energy. Symptoms tend to be exacerbated during fasting as during fasting, the body tries to rely more heavily on fats for energy. Fatty acids that are not completely metabolized due to the enzyme deficiency may build up in various organs and cause serious complications.
  • MGA 4: MGA (methylglutaconic aciduria) is a rare genetic disorder where the body's cells are unable to make sufficient energy resulting in an accumulation in the body of 3-methylglutaconic acid. Type 4 is characterized by symptoms which overlap type 1 and 3.
  • Malaria: A parasitic disease transmitted through mosquito bites.
  • Malonic aciduria: A very rare genetic disorder where a deficiency of a particular enzyme (malonyl-CoA decarboxylase) impairs the body's ability to convert fatty acids into energy that can be used by muscles such as the heart muscle. Fatty acids also accumulate in the body as they are not metabolized.
  • Maple syrup urine disease: An inherited metabolic disorder involving amino acid metabolism and characterized by a sweet smelling urine, similar to maple syrup.
  • Maple syrup urine disease, type 1A: A very rare inherited metabolic disorder involving abnormal metabolism of branched chain amino acids (leucine, isoleucine and valine) and resulting in severe illness which generally leads to death if not treated. Even mild form can result in mental and physical retardation if untreated. Various types of maple syrup urine disease involve different genetic defects - type 1A specifically involves a defect in the E1-alpha subunit gene.
  • Maple syrup urine disease, type 1B: A very rare inherited metabolic disorder involving abnormal metabolism of branched chain amino acids (leucine, isoleucine and valine) and resulting in severe illness which generally leads to death if not treated. Even mild form can result in mental and physical retardation if untreated. Various types of maple syrup urine disease involve different genetic defects - type 1B specifically involves a defect in the E1-beta subunit gene.
  • Maple syrup urine disease, type II: A very rare inherited metabolic disorder involving abnormal metabolism of branched chain amino acids (leucine, isoleucine and valine) and resulting in severe illness which generally leads to death if not treated. Even mild form can result in mental and physical retardation if untreated. Various types of maple syrup urine disease involve different genetic defects - type 2 specifically involves a defect in the E2 subunit gene.
  • Maple syrup urine disease, type III: A very rare inherited metabolic disorder involving abnormal metabolism of branched chain amino acids (leucine, isoleucine and valine) and resulting in severe illness which generally leads to death if not treated. Even mild form can result in mental and physical retardation if untreated. Various types of maple syrup urine disease involve different genetic defects - type 3 specifically involves a defect in the E3 subunit gene.
  • Medium and long chan 3-hydroxyacyl-coenzyme A dehydrogenase deficiency: A metabolic disorder characterized by the deficiency of an enzyme (3-hydroxyacyl-coenzyme A dehydrogenase) which is needed to metabolise long and medum-chain fatty acids. The severity of symptoms may vary depending on the degree of the deficiency.
  • Medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A rare inherited form of biochemical disorder characterized by the deficiency of a particular enzyme (3-Hydroxyacyl-CoA Dehydrogenase). The enzyme deficiency only affects certain body tissues, in particular the skeletal muscles. The lack of enzyme activity prevents some fats being converted into energy. Symptoms tend to be exacerbated during fasting as during fasting, the body tries to rely more heavily on fats for energy. Fatty acids that are not completely metabolized due to the enzyme deficiency may build up in various organs and cause serious complications.
  • Medium-Chain Acyl-CoA Dehydrogenase Deficiency: A rare disorder where the body lacks enzymes needed to convert some fats (medium-chain fatty acids) into energy and hence these fats build up in the body and cause damage.
  • Mesothelioma: Type of lung cancer associated with asbestos.
  • Metastatic insulinoma: A rare form of pancreatic cancer that causes excessive secretion of the hormone insulin and can spread to other parts of the body (metastasis).
  • Mitochondrial trifunctional protein deficiency: A rare genetic condition where the body is unable to convert certain fats to energy. More specifically, there is insufficient levels of a particular enzyme needed to metabolize a type of fat called long-chain fatty acids.
  • Multiple endocrine neoplasia type 1: Rare inherited disease causing tumors in multiple glands
  • Myxedema coma: Myxedema coma is a rare, life-threatening condition, occurs late in the progression of hypothyroidism. The condition is seen typically in elderly women and is often precipitated by infection, medication, environmental exposure, or other metabolic-related stresses.
  • Neonatal bacterial meningitis: Bacterial meningitis that occurs in an infant under 3 months of age. Bacterial meningitis is a bacterial brain infection.
  • Nephroblastomatosis - fetal ascites - macrosomia - wilms tumor: A rare condition characterized by kidney abnormalities, macroxomia, endocrine pancreas abnormalities, large fetus and mental retardation.
  • Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor: A rare condition characterized by kidney abnormalities, macroxomia, endocrine pancreas abnormalities, large fetus and mental retardation.
  • Organic acidemia: High blood levels of organic acids which is caused by abnormal protein metabolism. Maple syrup urine disease and propionic academia are examples of organic acidemias. Deficiency of certain metabolic enzymes one of the main causes of organic academia.
  • Oriental Hornet poisoning: The Oriental hornet can deliver a venomous sting which can result in serious and even life-threatening symptoms. Allergies to the venom are also a possible life-threatening consequence. Multiple stings increase the severity of symptoms.
  • PEPCK 1 deficiency: A rare inherited disorder where deficiency of an enzyme (phosphoenolpyruvate carboxykinase-1) prevents fats and proteins being turned into glucose which causes various problems. In type 1, the enzyme deficiency occurs in the liquid part of the cells.
  • PEPCK 2 deficiency: A rare inherited disorder where deficiency of an enzyme (phosphoenolpyruvate carboxykinase-2) prevents fats and proteins being turned into glucose which causes various problems. In type 2 the deficiency occurs in the mitochondrial part of the cell which is the energy conversion organelle in the cell.
  • Pancreatic adenoma: A pancreatic tumor which may be benign or malignant. Symptoms may vary depending on the location and size of the tumor as well as whether the tumor secretes hormones or not. For example, the tumor may block the biliary duct.
  • Pancreatic cancer, adult: Cancer that develops in the tissues of the pancreas. The pancreas produces digestive juices and certain hormones such as insulin that regulate sugar levels in the body and tumors can in some cases causes excessive hormone secretion.
  • Pancreatic islet cell tumors (functioning tumor): A tumor that arises from the pancreatic islet cells and produces too many hormones.
  • Pancreatic islet cell tumors (non-functioning tumor): A tumor that arises from the pancreatic islet cells and may involve cells that produce excess pancreatic hormones.
  • Phosphoenolpyruvate carboxykinase (PEPCK) deficiency: A rare inherited disorder where deficiency of an enzyme (phosphoenolpyruvate carboxykinase-1) prevents fats and proteins being turned into glucose which causes various problems. In type 1, the enzyme deficiency occurs in the liquid part of the cells and in type 2 the deficiency occurs in the mitochondrial part of the cell.
  • Pituitary dwarfism 1: A rare form of dwarfism caused by a lack of growth hormones. Patients have normal body proportions and sexual development was normal.
  • Pregnancy: Symptoms related to pregnancy.
  • Pregnancy symptoms: Symptoms related to pregnancy.
  • Probable human carcinogen - Chloramphenicol: Chloramphenicol (an antibiotic) is deemed to be a probable carcinogen to humans. The carcinogenicity of the substance may be influenced by the duration and level of exposure.
  • Pyridoxamine 5-prime-phosphate oxidase deficiency: A metabolic disorder involving a deficiency of an enzyme called 5-prime-phosphate oxidase. Symptoms start soon after birth and involves seizures and other anomalies.
  • Quinine - Teratogenic Agent: There is evidence to indicate that exposure to Quinine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Reye's syndrome: is a potentially fatal disease that causes numerous detrimental effects to many organs, especially the brain and liver
  • Rimbaud-Passouant-Vallat syndrome: A type of brain inflammation.
  • SCHAD Deficiency - formerly: A rare inherited form of biochemical disorder characterized by the deficiency of a particular enzyme (3-Hydroxyacyl-CoA Dehydrogenase). The enzyme deficiency only affects certain body tissues, in particular the skeletal muscles. The lack of enzyme activity prevents some fats being converted into energy. Symptoms tend to be exacerbated during fasting as during fasting, the body tries to rely more heavily on fats for energy. Fatty acids that are not completely metabolized due to the enzyme deficiency may build up in various organs and cause serious complications.
  • Sheehan Syndrome: A rare condition that occurs in women who suffer a severe uterine hemorrhage during childbirth. The resulting blood loss may damage the pituitary gland and result in hypopituitarism.
  • Short Chain Acyl CoA Dehydrogenase Deficiency (SCAD): A rare disorder where the body lacks enzymes needed to convert some fats (short-chain fatty acids) into energy. Symptoms are exacerbated by fasting or acute illness. The severity of symptoms is variable with some patients remaining virtually asymptomatic their whole life while other suffer symptoms from infancy.
  • Short stature - pituitary and cerebellar defects - small sella turcica: A rare syndrome characterized mainly by short stature and brain and pituitary gland defects.
  • Short-Chain Acyl-CoA Dehydrogenase Deficiency: A rare disorder where the body lacks enzymes needed to convert some fats (short-chain fatty acids) into energy.
  • Systemic monochloroacetate poisoning: Monochloracetate acid is a dangerous chemical which can cause systemic poisoning even if only skin exposure occurs. Exposure to the chemical can be life-threatening with serious symptoms starting within hours of the exposure.
  • Timme syndrome: A syndrome involving insufficiency of the thymus, adrenal and pituitary glands. The disorder has involves three phases, each of which has varying symptoms: phase 1 is before puberty, phase 2 occurs after puberty and phase 3 tends to occur in the third decade.
  • Tolazamide - Teratogenic Agent: There is evidence to indicate that exposure to Tolazamide during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Tolbutamide - Teratogenic Agent: There is evidence to indicate that exposure to Tolbutamide during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Tyrosinemia: A rare genetic metabolic disorder characterized by a deficiency of particular enzymes which prevents the breakdown of tyrosine which then builds up in the liver.
  • Visceral leishmaniasis: A tropical disease caused by a protozoan organism and transmitted to humans through sand fly bites. Also called Assam fever, black fever, dumdum fever, ponos or kala-azar.
  • Von Gierke Disease: An inherited metabolic disorder where a deficiency of the enzyme glucose-6-phosphatase prevents glycogen being turned into glucose leading to a buildup of glycogen in the liver and kidneys.
  • Von Gierke disease IA: A genetic metabolic disorder involving a deficiency of the enzyme glucose-6-phosphatase which results in the accumulation of glycogen in various tissues. G6P is stored as glycogen until the body needs to convert it to a sugar and use it to create energy. The enzyme deficiency prevents the conversion and hence low blood sugar levels result.
  • Von Gierke disease IB: A metabolic disorder involving a deficiency of glucose-6-phosphatase (due to a G6P transporter defect) which results in the accumulation of glycogen in various tissues and a reduced blood sugar level. The condition is characterized primarily by an increased risk of bacterial infections due to impaired neutrophil activity which is needed to fight bacterial invasions.
  • Wiedemann-Beckwith syndrome: A rare genetic disorder characterized by an enlarged tongue, omphalocele, excessive birth weight and ear creases.

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