Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ). Disease data Classification Disease Synonyms Combined defect in adenosylcobalamin and methylcobalamin synthesis Acyduria metylomalonowa z homocystynurią Łączony defekt w syntezie adenozylokobalaminy i metylkobalaminy Methylmalonic aciduria with homocystinuria ORPHA code 26 OMIM code 614857 ICD10 code E71.1 ICD11 code 5C50.E0 *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