Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition <i>cblF</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 CblF defect Acyduria metylomalonowa z homocystynurią, type cblF Defekt CblF Defekt kobalaminy F Niedobór lizosomalnego transportera błonowego kobalaminy Złożony defekt syntezy adenozylkobalaminy i metylkobalaminy, typu cblF Cobalamin F defect Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF Lysosomal membrane cobalamin transporter deficiency Methylmalonic aciduria with homocystinuria, type cblF ORPHA code 79284 OMIM code 277380 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