label: Methylmalonic Aciduria and Homocystinuria, cblF Type
label_lc: methylmalonic aciduria and homocystinuria, cblf type
description: An autosomal recessive form of combined methylmalonic aciduria and homocystinuria, caused by mutation(s) in the LMBRD1 gene, encoding lysosomal cobalamin transport escort protein LMBD1.