Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition <i>cblD</i> type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations. Disease data Classification Clinical subtype Synonyms CblD defect Acyduria metylomalonowa z homocystynurią, typu cblD Defekt CblD Defekt kobalaminy D Złożony defekt syntezy adenozylkobalaminy i metylkobalaminy, typu cblD Cobalamin D defect Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD Methylmalonic aciduria with homocystinuria, type cblD ORPHA code 79283 OMIM code 277410 ICD10 code E72.1 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