Pyruvate Carboxylase Deficiency Disease


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)