Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja Hypermethioninemia due to glycine N-methyltransferase deficiency is a rare, genetic inborn error of metabolism characterized by a relatively benign clinical phenotype, with only mild to moderate hepatomegaly reported, in addition to laboratory studies revealing permanent, greatly increased hypermethioninemia, mild to moderate elevation of aminotransferases and highly elevated plasma S-adenosyl-methionine with normal S-adenosylhomocysteine and total homocysteine. Disease data Klasyfikacja Disease Synonimy Glycine N-methyltransferase deficiency Hipermetioninemia z powodu niedoboru GNMT Niedobór N-metylotransferazy glicyny Hypermethioninemia due to GNMT deficiency Kod ORPHA 289891 Kod OMIM 606664 Kod ICD10 E72.1 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