MeSH Browser

MeSH Supplementary: Methylmalonic acidemia with homocystinuria
Unique ID: C537359
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C537359
Entry Term(s): 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
Registry Number: 0
Heading Mapped to: *Homocystinuria; Vitamin B 12 Deficiency / *congenital
Frequency: 53
Note: 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
Date of Entry: 2010/08/25
Revision Date: 2015/08/18

Methylmalonic acidemia with homocystinuria MeSH Supplementary Concept Data 2024