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Diseases » Lactic Acidosis » Glossary

Glossary for Lactic Acidosis

$3-$: 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. Symptoms tend to be more severe in males who suffer progressive neurodegeneration whereas females tend to suffer mainly from developmental delay.
$3-methylglutaconic aciduria, type 4$: 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.
Abdominal pain: A condition which is characterized by the sensation of pain that is located in the abdomen
Acidosis: Excess acidic toxins or waste products in the blood
Cardiomyopathy: Any disease of the heart muscle
Cardiomyopathy - hypotonia - lactic acidosis: A rare syndrome characterized by heart muscle disease, reduced muscle tone and lactic acidosis from birth.
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.
Chronic Kidney Disease: Long-term and generally irreversible disease of the kidneys due to infection, obstruction, congenital diseases or generalised diseases causing failure of the kidneys' normal functions.
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.
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.
Diabetic Ketoacidosis: Life-threatening complication of high blood sugars and diabetes.
Diabetic Nephropathy: Kidney disease from diabetic blood sugars.
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.
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.
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.
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 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.
Heart conditions: Any condition that affects the heart
Herbal Agent overdose - Germanium: Germanium is used as a health food supplement mainly in Japan but it can cause various problems if too much is taken. Chronic use and the ingestion of a large amount at one time can result in overdose symptoms.
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.
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.
Hyperventilation: Excessively rapid breathing causing blood gas imbalances
Kidney conditions: Any condition affecting the kidney organs.
Lethargy: feeling of tiredness
Lipoamide dehydrogenase deficiency: A very rare enzyme deficiency (dihydrolipoamide dehydrogenase) which can cause lactic acidosis. The age of onset and symptoms are variable.
Liver failure: Acute liver failure (ALF) is an uncommon condition in which the rapid deterioration of liver function results in coagulopathy and alteration in the mental status of a previously healthy individual.
Lung conditions: Various conditions affecting the lungs or related airways.
MELAS: A mitochondrial disorder characterized by stroke-like episodes, headaches, vomiting and other neurological symptoms.
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.
Malignant hyperthermia: A very rare genetic disorder where sufferers suffer episodes of adverse reactions when certain anesthetics or muscle relaxants are administered.
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.
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.
Metabolic disorders: Disorders that affect the metabolic system in human
Metformin - Teratogenic Agent: There is evidence to indicate that exposure to Metformin 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.
Mitochondrial DNA depletion syndrome: A group of conditions called mitochondrial disorders involving a reduced number of mitochondrial DNA in tissues rather than defective mitochondrial DNA. The disorders generally involve neurological symptoms which can occur during infancy or childhood. Symptoms will vary depending on the specific order involved.
Mitochondrial diseases: Any of a group of mitochondrial disorders affecting cell metabolism and especially muscles.
Mitochondrial encephalomyopathy - aminoacidopathy: A very rare syndrome characterized mainly by muscle and brain disease and an amino acid disorder.
Mitochondrial myopathy - lactic acidosis: A very rare syndrome characterized mainly by muscle disease and a metabolic disorder. The severity and progression of the disease is variable with some dying early in their second decade and others living longer.
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.
Myoclonus with epilepsy with ragged red fibers: A rare disorder of mitochondrial metabolism characterized by myoclonic epilepsy and ragged-red muscle fibers. Mitochondria are the part of the body cells that produce energy.
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.
Nausea: The queasy feeling of nausea and often also vomiting.
Paracetamol - Teratogenic Agent: There is evidence to indicate that exposure to Paracetamol 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.
Polyneuropathy - Ophthalmoplegia - Leukoencehalopathy - Intestinal Pseudo-Obstruction: 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.
Posthemorrhagic anemia: Posthemorrhagic anemia refers to a reduced number of red blood cells in the body due to bleeding.
Pyruvate carboxylase deficiency:
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 deficiency: An inherited carbohydrate metabolism disorder where a deficiency of pyruvate dehydrogenase results in metabolic acidosis and mental retardation as well as other neurological symptoms. The condition may be mild or severe. The condition is exacerbated by eating high carbohydrate meals and stress.
Pyruvate dehydrogenase phosphatase deficiency: A genetic disease involving an enzyme deficiency which causes exercise intolerance and mild developmental delay. Symptoms are variable.
Respiratory failure: Failure of the respiratory system
SCHAD 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. Symptoms tend to be more severe in males who suffer progressive neurodegeneration whereas females tend to suffer mainly from developmental delay.
Shock: Severe condition from reduced blood circulation
Short Bowel Syndrome: Disorder of shortened bowel usually from bowel surgery.
Succinic acidemia: A rare metabolic disorder characterized by high levels of succinic acid in the blood.
Succinic acidemia - lactic acidosis, congenital: A very rare disorder characterized by high levels of succinic acid in the blood and high blood acidity which starts at birth or soon after.
Type 10 17b-hydroxysteroid dehydrogenase 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. Symptoms tend to be more severe in males who suffer progressive neurodegeneration whereas females tend to suffer mainly from developmental delay.
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.