A hereditary autosomal recessive disorder of VITAMIN B12 metabolism that is characterized by variable phenotypes including INTELLECTUAL DISABILITY, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings may also occur. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood. Caused by mutations in the MMACHC gene. OMIM: 277400
Also Known As:
Cobalamin-C methylmalonic acidemia and homocystinuria; Methylmalonic Acidemia and Homocystinuria, CblC Type; Methylmalonic Aciduria and Homocystinuria, CblC Type; Methylmalonic Aciduria and Homocystinuria, Vitamin B12-Responsive; Methylmalonic acidemia and homocystinemia; Methylmalonic acidemia and homocystinuria cblC type