Mitochondrial methylmalonic aciduria type A protein
The MMADHC gene encodes a mitochondrial transport protein involved in cobalamin transport. Mutations cause autosomal recessive methylmalonic aciduria cblA.
Dobson CM et al. (2002) Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements.
Lerner-Ellis JP et al. (2004) Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism.
Orphanet ID 123294
Wikipedia EN (MMAA)
Update: Aug. 14, 2020