Pyruvate Carboxylase Deficiency Disease (definition)

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Pyruvate Carboxylase Deficiency Disease

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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)

See Also Pyruvate Carboxylase

Other names Pyruvate Carboxylase Deficiencies; Deficiency, Pyruvate Carboxylase; Deficiencies, Pyruvate Carboxylase; Carboxylase Deficiency, Pyruvate; Carboxylase Deficiencies, Pyruvate; Lactic Acidosis with Ataxia, Type II; Ataxia with Lactic Acidosis, Type II; Type II Ataxia with Lactic Acidosis; Pyruvate Carboxylase Deficiency; Deficiency Disease, Pyruvate Carboxylase; Ataxia with Lactic Acidosis 2

Substance	CAS Registry & name	Categories	Source
Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency	0	Leigh Disease Pyruvate Carboxylase Deficiency Disease.

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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