Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition <i>cblC</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 megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. Disease data Classification Clinical subtype Synonyms CblC defect Acyduria metylomalonowa z homocystynurią, typu cblC Defekt CblC Defekt kobalaminy C Złożony defekt syntezy adenozylkobalaminy i metylkobalaminy, typu cblD Cobalamin C defect Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC Methylmalonic aciduria with homocystinuria, type cblC ORPHA code 79282 OMIM code 277400 ICD10 code D58.8 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