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)

Descriptor ID	D015324
MeSH Number(s)	C10.228.140.163.100.725 C16.320.565.189.725 C16.320.565.202.810.666 C18.452.132.100.725 C18.452.648.189.725 C18.452.648.202.810.666 C18.452.660.705
Concept/Terms	Pyruvate Carboxylase Deficiency Disease Pyruvate Carboxylase Deficiency Disease Ataxia with Lactic Acidosis, Type II Ataxia with Lactic Acidosis II Lactic Acidosis with Ataxia, Type II Pyruvate Carboxylase Deficiency Carboxylase Deficiencies, Pyruvate Carboxylase Deficiency, Pyruvate Deficiencies, Pyruvate Carboxylase Deficiency, Pyruvate Carboxylase Pyruvate Carboxylase Deficiencies Type II Ataxia with Lactic Acidosis Ataxia with Lactic Acidosis 2 Deficiency Disease, Pyruvate Carboxylase

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