About The Medical Condition Lactic Acidosis with Ataxia, Type II
Find the definition of the medical term Lactic Acidosis with Ataxia, Type II. Lactic Acidosis with Ataxia, Type II defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Lactic Acidosis with Ataxia, Type II
Lactic Acidosis with Ataxia, Type II Medical Condition |
---|
What's The Definition Of The Medical Condition Lactic Acidosis with Ataxia, Type II?
An autosomal recessive metabolic disorder caused by absent or decreased PYRUVATE CARBOXYLASE activity, the enzyme that regulates gluconeogenesis, lipogenesis, and neurotransmitter synthesis. Clinical manifestations include lactic acidosis, seizures, respiratory distress, marked psychomotor delay, periodic HYPOGLYCEMIA, and hypotonia. The clinical course may be similar to LEIGH DISEASE. (From Am J Hum Genet 1998 Jun;62(6):1312-9)
|
More Medical Conditions
A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z
Medical Conditions Definitions Of The Day
- Line Management, Product ‐ Management control systems for structuring health care delivery…
- Hepatic Duct ‐ Predominantly extrahepatic bile duct which is formed by the junction…
- Nonacceptors ‐ The seeking and acceptance by patients of…
- Pregnant Mares Serum ‐ Polypeptide hormones secreted in pregnant mares at the junction…
- Mutagenesis, Viral Insertional ‐ Mutagenesis where the mutation is caused by the introduction…
- Information System, Radiologic ‐ Information systems, usually computer-assisted, designed to store,…
- Epidermolysis Bullosa ‐ Group of genetically determined disorders characterized by the…
- Ketosuccinates ‐ Salts and esters of…
- Kyasanur Forest disease virus ‐ A subgroup of the genus FLAVIVIRUS that causes encephalitis and…
- DNA Nucleotidylexotransferase ‐ A non-template-directed DNA polymerase normally found in vertebrate…