An inherited metabolic disorder caused by deficient enzyme activity in the PYRUVATE DEHYDROGENASE COMPLEX, resulting in deficiency of acetyl CoA and reduced synthesis of acetylcholine. Two clinical forms are recognized: neonatal and juvenile. The neonatal form is a relatively common cause of lactic acidosis in the first weeks of life and may also feature an erythematous rash. The juvenile form presents with lactic acidosis, alopecia, intermittent ATAXIA; SEIZURES; and an erythematous rash. (From J Inherit Metab Dis 1996;19(4):452-62) Autosomal recessive and X-linked forms are caused by mutations in the genes for the three different enzyme components of this multisubunit pyruvate dehydrogenase complex. One of the mutations at Xp22.2-p22.1 in the gene for the E1 alpha component of the complex leads to LEIGH DISEASE.

Descriptor ID	D015325
MeSH Number(s)	C10.228.140.163.100.750 C10.597.606.643.455.875 C16.320.322.500.875 C16.320.400.525.875 C16.320.565.189.750 C16.320.565.202.810.766 C18.452.132.100.750 C18.452.648.189.750 C18.452.648.202.810.766 C18.452.660.710
Concept/Terms	Pyruvate Dehydrogenase Complex Deficiency Disease Pyruvate Dehydrogenase Complex Deficiency Disease Ataxia, Intermittent, with Pyruvate Dehydrogenase, or Decarboxylase, Deficiency Intermittent Ataxia with Pyruvate Dehydrogenase Deficiency PDH Deficiency Deficiency, PDH PDHC Deficiency Disease Pyruvate Decarboxylase Deficiency Deficiency, Pyruvate Decarboxylase Pyruvate Dehydrogenase Complex Deficiency Pyruvate Dehydrogenase Deficiency Deficiency, Pyruvate Dehydrogenase Ataxia, Intermittent, with Abnormal Pyruvate Metabolism PDHC Deficiency Deficiency, PDHC Pyruvate Dehydrogenase Complex Deficiency Disease, Neonatal Pyruvate Dehydrogenase Complex Deficiency Disease, Neonatal Neonatal Pyruvate Dehydrogenase Complex Deficiency Disease Ataxia with Lactic Acidosis, Type I Ataxia with Lactic Acidosis, Type I Type I Ataxia with Lactic Acidosis Lactic Acidosis with Ataxia, Type I Ataxia with Lactic Acidosis Ataxia with Lactic Acidosis I Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease Pyruvate Dehydrogenase Complex Deficiency Disease, Juvenile

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