Pyruvate Carboxylase Deficiency Disease

Pyruvatkarboxylasbristsjukom

Engelsk definition

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)

Svenska synonymer

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Engelska synonymer

Ataxia with Lactic Acidosis II — Ataxia with Lactic Acidosis, Type II — Lactic Acidosis with Ataxia, Type II — Pyruvate Carboxylase Deficiency — Deficiency, Pyruvate Carboxylase — Type II Ataxia with Lactic Acidosis — Ataxia with Lactic Acidosis 2 — Deficiency Disease, Pyruvate Carboxylase