Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood. Disease data Classification Clinical subtype Synonyms Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency Niedobór dehydrogenazy pirogronianowej kompleksu komponentu E2 Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency Pyruvate dehydrogenase complex component E2 deficiency ORPHA code 79244 OMIM code 245348 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