Defects in the pyruvate dehydrogenase (PDH) complex are an important cause of primary lactic acidosis. It can also present as a more chronic neurodegenerative disease with extensive cerebral atrophy and structural anomalies in the brain, as Leigh syndrome. The great majority of PDH complex deficiencies result from mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C53 Inborn errors of energy metabolism
H01997 Pyruvate dehydrogenase E1-alpha deficiency
Pathway-based classification of diseases [BR:br08402]
Carbohydrate metabolism
nt06031 Citrate cycle and pyruvate metabolism
H01997 Pyruvate dehydrogenase E1-alpha deficiency