CBLC and homocystinuria: Patients with epi-cblC have the same clinical presentation as cblC type, an autosomal recessive inherited disorder of intracellular vitamin B12 metabolism with combined methylmalonic aciduria and homocystinuria (OMIM phenotype ID: 277400) due to mutations in the MMACHC gene (metabolism of cobalamin-associated C; OMIM gene ID, 609831).