Methylmalonic aciduria, cblA type
Methylmalonic aciduria, cblA type
Definition
An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAA gene, encoding MMAA protein.
Also known as cobalamin A disease, cobalamin B disease, methylmalonic acidemia cblA type, methylmalonic acidemia, cblA type, methylmalonic aciduria cblA type, methylmalonic aciduria, cblA type, methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cblA type, Methylmalonic aciduria, vitamin B12-responsive, cblA type, vitamin B12-responsive methylmalonic acidemia type cblA, vitamin B12-responsive methylmalonic aciduria type cblA — per MONDO