Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja A very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood. Disease data Klasyfikacja Clinical subtype Synonimy 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 Kod ORPHA 79244 Kod OMIM 245348 Kod ICD10 E74.4 Kod ICD11 - *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