homocystinuria autosomal recessive disease hereditary anemia homocystinuria without methylmalonic aciduria https://www.malacards.org/card/homocystinuria_without_methylmalonic_aciduria homocystinuria without methylmalonic aciduria MEDGEN:929148 OMIMPS:236270 functional methionine synthase deficiency MONDO:0018964 GARD:0016537 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; cblE, cblG and cblD-variant 1 (cblDv1). icd11.foundation:726186034 methylcobalamin deficiency Orphanet:622 UMLS:C4303479 SCTID:721225009 inborn disorder of cobalamin metabolism and transport