Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; <i>cblE, cblG</i> and <i>cblD-</i>variant 1 (<i>cblD</i>v1). Disease data Classification Disease Synonyms Functional methionine synthase deficiency Funkcjonalny Niedobór syntazy metioniny Niedobór metylokobalaminy Methylcobalamin deficiency ORPHA code 622 OMIM code 236270 ICD10 code E72.1 ICD11 code 5C50.B *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