Pyruvate dehydrogenase deficiency
CARBOHYDRATE METABOLIC DISORDER CHARACTERIZED BY THE BUILDUP OF LACTIC ACID IN THE BODY AND A VARIETY OF NEUROLOGICAL PROBLEMS AND CAUSED BY A DEFICIENCY OF ONE OF THE THREE ENZYMES IN THE PYRUVATE DEHYDROGENASE COMPLEX
Pyruvate dehydrogenase complex deficiency disease; Deficiency of pyruvate dehydrogenase
Pyruvate dehydrogenase deficiency (also known as pyruvate dehydrogenase complex deficiency or PDCD) is a rare neurodegenerative disorders associated with abnormal mitochondrial metabolism. PDCD is a genetic disease resulting from mutations in one of the components of the pyruvate dehydrogenase complex (PDC).