Methylmalonic aciduria, cblB type
Methylmalonic aciduria, cblB type
Definition
An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAB gene, encoding cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial.
Also known as methylmalonic acidemia cblB type, methylmalonic acidemia, cblB type, methylmalonic aciduria, cblB type, methylmalonic aciduria, vitamin B12-responsive, cblB type, vitamin B12-responsive methylmalonic acidemia type cblB, vitamin B12-responsive methylmalonic aciduria, type cblB — per MONDO