Pyruvate Carboxylase Deficiency Disease
Synonyms
Ataxia with Lactic Acidosis 2
Ataxia with Lactic Acidosis II
Ataxia with Lactic Acidosis, Type II
Deficiency Disease, Pyruvate Carboxylase
Deficiency, Pyruvate Carboxylase
Lactic Acidosis with Ataxia, Type II
Pyruvate Carboxylase Deficiency
Type II Ataxia with Lactic Acidosis
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)
See Also