About The Medical Condition Ataxia with Lactic Acidosis, Type II
Find the definition of the medical term Ataxia with Lactic Acidosis, Type II. Ataxia with Lactic Acidosis, Type II defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Ataxia with Lactic Acidosis, Type II
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What's The Definition Of The Medical Condition Ataxia with Lactic Acidosis, 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)
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