TREATMENTS &
RESEARCH

Search the
latest
treatment
information
here.

Dr. Huntley's
Diagnosis
Checklist

Have a symptom?
See what questions
a doctor would ask.

Next Prev

Diseases » Acidosis » Glossary

Glossary for Acidosis

$3-alpha-hydroxyisobutyryl-CoA hydrolase deficiency$: A metabolic disorder involving an enzyme deficiency which causes symptoms such as degeneration of the nervous system. The other features of the disorder are somewhat variable.
$3-methylglutaconic aciduria, type 4$: 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.
Acidosis: Excess acidic toxins or waste products in the blood
Acute tubulointerstitial nephritis and uveitis syndrome: The association of a sudden kidney disorder with eye inflammation. Autoimmune processes are believed to be involved.
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.
Anoxia: Lack of oxygen to the body's tissues.
Apple seed poisoning: Apple seeds contain a toxic chemical called amygdalin which can cause serious symptoms if eaten in large quantities. Hospital admission is recommended if more than 50 apple seeds have been consumed.
Biotinidase deficiency: A metabolic disorder where the body lacks the enzyme biotinidase needed to process the vitamin called biotin (vitamin H) into carboxylase enzymes.
Blood conditions: Conditions that affect the blood
Breath odor: Unpleasant or excessive breath odor.
Bright's Disease: A condition where the parts of the kidneys that are responsible for filtering become inflamed and results in blood and proteins accidentally leaking into the urine. The condition can occur after certain infections and serious kidney dysfunction can result in severe or chronic complications.
Cardiogenic shock: an inadequate circulation of blood due to primary failure of the ventricles of the heart to function effectively
Cardiomyopathy: Any disease of the heart muscle
Cataract and cardiomyopathy: A rare syndrome characterized by the association of congenital cataracts, heart muscle disease, lactic acidosis and skeletal muscle disease. The disorder involves the abnormal storage of lipids and glycogen in the skeletal and heart muscles. The cataracts progress rapidly and require surgery. The severity of the disorder ranges from stillbirth to survival into the fourth decade.
Chemical poisoning: Morbid condition caused by chemical.
Chemical poisoning - Endothall: Endothall is a chemical used mainly as a pesticide and rodenticide but it is rarely used today. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
Chemical poisoning - Strychnine: Strychnine is used as a rodenticide. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
Cholera: An acute bacterial disease transmitted through food or water contaminated with human faeces. The intestinal infection is caused by the bacterium Vibrio cholerae.
Classic Distal Renal Tubular Acidosis: A condition which is characterized by the formation of an acidosis due to a problem with the renal distal tubule
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.
Colibacillosis: Infection with a bacteria called Escherichia coli. Infection can cause severe diarrhea or septicemia. The bacteria can also produce toxins which can affect other parts of the body also. Infections can occur anywhere in the world but some developing countries have endemic areas. Transmission can occur contaminated animal products or contact with infected cats and dogs.
Complex 1 mitochondrial respiratory chain deficiency: A rare genetic defect where an enzyme deficiency (NADH CoQ) disrupts cellular processes and causes various organic acid disorders. Any of a variety of the components of the enzyme may be missing or defective and hence the clinical presentation and severity may vary. Presentation may range from infantile death to various disorders such as Leigh's disease, Parkinson's disease and cardiomyopathy.
Copperhead snake poisoning: The Copperhead snake is a poisonous snake found mainly in parts of North America. The toxicity of the poison varies among species but some species are extremely poisonous and readily result in death if the patient is not treated.
Crotalidae snake poisoning: Crotalids are snakes from the Crotalidae family. This group of snakes includes rattlesnakes which are usually found in America. These snakes are easily identified by the "rattle" at the tip of their tails. The toxicity of the venom can vary among species but some can result in death if prompt treatment is not given.
Cutler Syndrome: A rare disorder characterized by multisystem disorders including muscle wasting, ataxia, epilepsy, anemia and kidney disease. The kidney disease is most likely present at birth.
DEND syndrome: An inherited disorder characterized by developmental delay, epilepsy and diabetes.
Diabetes: Failing or reduced ability of the body to handle sugars.
Diabetic Ketoacidosis: Life-threatening complication of high blood sugars and diabetes.
Drowsiness: Excessive tiredness or sleepiness
Fanconi renotubular syndrome: A condition where the kidneys are unable to reabsorb glucose and amino acids and hence they are excreted in the urine. The condition may be inherited or occur as a result of heavy metal toxicity, malignancy and myeloma.
Fanconi syndrome: Fanconi syndrome that occurs secondary to the accumulation of crystals of light-chain immunoglobulin molecules in the kidney tubules which affects their functioning.
Fanconi-ichthyosis-dysmorphism: A very rare syndrome characterized by scaly skin (ichthyosis), anemia, muscle anomalies and various other abnormalities. All six reported cases died within 6 months.
Finnish lethal neonatal metabolic syndrome: A very rare lethal metabolic disorder characterized by a deficiency of complex III which causes brain, kidney and liver problems and ultimately results in early death.
Fistula: The abnormal passage between two internal organs
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.
Glomerulopathy with fibronectin deposits: An inherited form of kidney disease.
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.
Herbal Agent overdose - Wormwood: Wormwood can be used to treat worm infestations and as a sedative or hair tonic. The herbal agent contains chemicals which can cause various symptoms if excessive quantities are taken.
Hereditary primary Fanconi disease: A rare inherited disorder characterized by defective reabsorption of various substances such as phosphate, potassium, amino acids and glucose which manifests as a wide range of abnormalities and problems.
Hydroxyacyl-coa dehydrogenase, type 2, deficiency: A rare genetic disorder involving the deficiency of an enzyme (hydroxyacyl-coa dehydrogenase). The severity of the symptoms is highly variable with some cases resulting in death during the first decade while others suffer psychomotor and regression. Some cases simply involve developmental delay.
Hyperemesis Gravidarum: Rare condition of excessive vomiting during pregnancy
Hyperkalaemia: Increased concentration of potassium in the blood.
Hyperkalemic Renal Tubular Acidosis: A condition characterized by the inability of the kidneys to excrete acidic urine as well as an accumulation of potassium in the body
Hyperpnea: A condition characterized by an abnormal increase in the depth and rate of ones respiration
Hyperventilation: Excessively rapid breathing causing blood gas imbalances
Hypoaldosteronism: Reduced aldosterone levels. One of the functions of aldosterone is to regulate salt levels in the body.
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.
Infection: Infections as a symptom.
Intermediate cystinosis: Cystinosis is a condition where excess amino acid cystine builds up to harmful levels in the body. The intermediate form of cystinosis starts later than the nephropathic form but the symptoms are the same.
Kidney conditions: Any condition affecting the kidney organs.
Kidney stones: Stone-like calcium deposits in the kidney.
Lactic Acidosis: Acidic blood (acidosis) due to buildup of lactate
Leukemia: Cancer of the blood cells, usually white blood cells.
Lipoamide dehydrogenase deficiency: A very rare enzyme deficiency (dihydrolipoamide dehydrogenase) which can cause lactic acidosis. The age of onset and symptoms are variable.
Lowe oculocerebrorenal syndrome: A rare inherited metabolic disorder characterized primarily by eye and bone abnormalities, mental retardation and kidney problems.
Lung conditions: Various conditions affecting the lungs or related airways.
Lung damage: COPD is defined as the destruction of the air spaces distal to the terminal bronchioles and their walls and without obvious fibrosis.
MELAS: A mitochondrial disorder characterized by stroke-like episodes, headaches, vomiting and other neurological symptoms.
Marasmus: A form of malnutrition caused by a severe deficiency of both protein and calories
Metabolic Acidosis: Metabolic acidosis is a process which if unchecked leads to acidemia (i.e. blood pH is low (less than 7.35) due to increased production of H+ by the body or the inability of the body to form bicarbonate (HCO3-) in the kidney.
Metabolic disorders: Disorders that affect the metabolic system in human
Microvillus Inclusion Disease: A rare, inherited, progressive intestinal disease where a defect in the intestinal wall results in severe diarrhea after birth.
Mitochondrial diseases: Any of a group of mitochondrial disorders affecting cell metabolism and especially muscles.
Mitochondrial neurogastrointestinal encephalopathy syndrome: A rare genetic disorder which affects a number of body systems and manifests results in symptoms such as droopy eyelids, progressive eye muscle weakness, gastrointestinal dysmotility, brain disease, thin body, peripheral neuropathy and muscle disease.
Multiple carboxylase deficiency, propionic acidemia: A disorder of fat metabolism where the body is unable to convert fat to energy due to the lack of a number of enzymes (carboxylases). Sufferers need to eat regularly to prevent symptoms. Symptoms are determined by the size and exact location of the tumor.
Myopathy with lactic acidosis and sideroblastic anemia: A rare disorder of the bone marrow and skeletal muscles which manifests as muscle disease and anemia. Progressive intolerance to exercise usually starts during childhood with anemia occurring around adolescence.
NADH CoQ reductase, deficiency of: A rare genetic defect where an enzyme deficiency (NADH CoQ) disrupts cellular processes and causes various organic acid disorders. Any of a variety of the components of the enzyme may be missing or defective and hence the clinical presentation and severity may vary. Presentation may range from infantile death to various disorders neurodegenerative disorders such as Leigh's disease, Parkinson's disease and cardiomyopathy.
Nausea: The queasy feeling of nausea and often also vomiting.
Necrotizing enterocolitis: A rare disease that is tends to occur in premature infants and involves inflammation and destruction of gastrointestinal tissue. It usually occurs within weeks of birth - often after the start of milk feeding. The condition can be extremely serious and even fatal.
Nephropathic cystinosis: Cystinosis is a condition where excess amino acid cystine builds up to harmful levels in the body. The nephropathic form of cystinosis usually starts during infancy and can result in severe complications if untreated.
Ondine syndrome: A rare condition involving defects in the mechanism that control breathing.
Ondine's curse: A condition involving defects in the mechanism that control breathing.
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.
Osteopetrosis: A bone condition characterized by brittle bones and increased bone density which increases the risk of bone fractures.
Osteopetrosis with renal tubular acidosis: A rare disorder where increased bone density is caused by carbonic anhydrase II deficiency.
Poisoning: The condition produced by poison
Posthemorrhagic anemia: Posthemorrhagic anemia refers to a reduced number of red blood cells in the body due to bleeding.
Proximal Renal Tubular Acidosis: This is a condition that is characterised by a metabolic acidosis state caused by impairment of a persons renal function
Pyruvate carboxylase deficiency, Group B: A rare inherited disorder characterized by a deficiency of pyruvate carboxylase which leads to accumulation of lactic acid and other compounds which can have a toxic effect on the nervous system and body organs. Type B has severe, life-threatening symptoms that can be noticed soon after birth.
Pyruvate carboxylase deficiency, Group C: A rare inherited disorder characterized by a deficiency of pyruvate carboxylase which leads to accumulation of lactic acid and other compounds which can have a toxic effect on the nervous system and body organs. Type C is a mild form of the condition.
Pyruvate decarboxylase deficiency: A rare genetic disorder involving an enzyme (pyruvate decarboxylase) deficiency which results in symptoms such as failure to thrive, psychomotor retardation, small head, eye problems, increased blood ammonia levels and lactic acidosis which can result in infant death in severe cases.
Pyruvate dehydrogenase phosphatase deficiency: A genetic disease involving an enzyme deficiency which causes exercise intolerance and mild developmental delay. Symptoms are variable.
Renal Tubular Acidosis: A rare disorder where the kidneys secrete too much hydrogen and don't reabsorb enough bicarbonate which can result in symptoms such as excessive blood acidity and loss of potassium.
Renal rickets: A bone disease where kidney dysfunction causes bone resorption and results in weak, soft bones.
Shock: Severe condition from reduced blood circulation
Sjogren's Syndrome: Autoimmune disease damaging the eye tear ducts and other glands.
Succinic acidemia: A rare metabolic disorder characterized by high levels of succinic acid in the blood.
Systemic disorders: Any condition that occurs in a system of the body
Tiglic acidemia: Increased blood tiglic acid levels due to a metabolic disorder involving the breakdown of isoleucine to propionic acid.
Tissue hypoxia: inadequate blood supply to a a particular body part
Toni-Fanconi syndrome type 1:
Type 1 diabetes: Severe insulin-treated diabetes typically occurring in young people.
Uremia: Excessive urea and waste products in the blood
Vomiting: Vomiting or retching symptoms.
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.
Wilson's Disease: Wilson disease, or hepatolenticular degeneration, is a neurodegenerative disease of copper metabolism.