Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease. Disease data Classification Clinical subtype Synonyms DLD deficiency Choroba syropu klonowego z deficytem E3 Niedobór dehydrogenazy dihydrolipoamidowej Niedobór DLD Dihydrolipoamide dehydrogenase deficiency E3-deficient maple syrup urine disease ORPHA code 2394 OMIM code 246900 ICD10 code E74.4 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl