Pyruvate Dehydrogenase Complex Deficiency Disease

**Definition:** 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.

**Tree numbers:** - C10.228.140.163.100.750 - C10.597.606.360.455.875 - 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

**Synonyms:** - PDH Deficiency - Ataxia, Intermittent, with Abnormal Pyruvate Metabolism - Ataxia, Intermittent, with Pyruvate Dehydrogenase, or Decarboxylase, Deficiency - Pyruvate Dehydrogenase Complex Deficiency - Pyruvate Dehydrogenase Deficiency - Intermittent Ataxia with Pyruvate Dehydrogenase Deficiency - PDHC Deficiency - Pyruvate Decarboxylase Deficiency - PDHC Deficiency Disease