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.
Also Known As:
Ataxia with Lactic Acidosis; Ataxia with Lactic Acidosis I; Ataxia, Intermittent, with Abnormal Pyruvate Metabolism; Ataxia, Intermittent, with Pyruvate Dehydrogenase, or Decarboxylase, Deficiency; Intermittent Ataxia with Pyruvate Dehydrogenase Deficiency; Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease; Neonatal Pyruvate Dehydrogenase Complex Deficiency Disease; PDH Deficiency; PDHC Deficiency; PDHC Deficiency Disease; Pyruvate Decarboxylase Deficiency; Pyruvate Dehydrogenase Complex Deficiency; Pyruvate Dehydrogenase Complex Deficiency Disease, Juvenile; Pyruvate Dehydrogenase Complex Deficiency Disease, Neonatal; Pyruvate Dehydrogenase Deficiency; Type I Ataxia with Lactic Acidosis; Deficiency, PDH; Deficiency, PDHC; Deficiency, Pyruvate Decarboxylase; Deficiency, Pyruvate Dehydrogenase; Ataxia with Lactic Acidosis, Type I; Lactic Acidosis with Ataxia, Type I