Defects in the pyruvate dehydrogenase (PDH) complex is a major cause of primary lactic acidosis and neurological dysfunction in infancy. Recently, mutations in DLAT, the gene encoding dihydrolipoamide acetyltransferase, the E2 core component of the complex, have been described. Patients are less severely affected than typical patients with E1 mutations. Episodic dystonia was the major neurological manifestation.
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
H01999 Pyruvate dehydrogenase E2 deficiency
Pathway-based classification of diseases [BR:br08402]
Carbohydrate metabolism
nt06031 Citrate cycle and pyruvate metabolism
H01999 Pyruvate dehydrogenase E2 deficiency
