Pyruvate Dehydrogenase Complex Deficiency Disease
Ataxia with Lactic Acidosis
Ataxia with Lactic Acidosis I
Ataxia with Lactic Acidosis, Type I
Ataxia, Intermittent, with Abnormal Pyruvate Metabolism
Ataxia, Intermittent, with Pyruvate Dehydrogenase, or Decarboxylase, Deficiency
Deficiency, PDH
Deficiency, PDHC
Deficiency, Pyruvate Decarboxylase
Deficiency, Pyruvate Dehydrogenase
Intermittent Ataxia with Pyruvate Dehydrogenase Deficiency
Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease
Lactic Acidosis with Ataxia, Type I
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
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.