has material basis in germline mutation in MMACHC methylmalonic aciduria and homocystinuria type cblC https://www.malacards.org/card/methylmalonic_aciduria_and_homocystinuria_cblc_type cobalamin C defect cblC NANDO:2201107 methylmalonic aciduria with homocystinuria, type cblC UMLS:C1848561 methylmalonic aciduria and homocystinuria cblC methylmalonic acidemia and homocystinuria cblC DOID:0050715 GARD:0012128 NANDO:1201040 OMIM:277400 cobalamin c disease A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) and is transmitted in an autosomal recessive manner. cblC defect NCIT:C142174 methylmalonic acidemia with homocystinuria type cblC methylmalonic aciduria and homocystinuria type cblC MAHCC Orphanet:79282 MEDGEN:341256 SCTID:74653006 combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC MONDO:0010184 methylmalonic aciduria and homocystinuria hereditary peripheral neuropathy