Inborn errors of cobalamin metabolism give rise to an array of clinical disorders with
hematological and neurological manifestations, elevations of methylmalonic acid and/or …

Purpose Our laboratory has classified patients with methylmalonic aciduria using somatic
cell studies for over four decades. We have accumulated 127 fibroblast lines from patients …

Mutations in the MUT gene, which encodes the mitochondrial enzyme methylmalonyl-CoA
mutase, are responsible for the mut form of methylmalonic aciduria (MMA). In this study, a …

Methylmalonic aciduria is known to result from defects in the enzyme methylmalonyl CoA
mutase (MCM)(mut complementation group) and from defects in the synthesis of the MCM …

Background Methylmalonic aciduria is an autosomal recessive inborn error of the
propionate metabolic pathway. One form of this disorder is caused by mutations in …

Background Isolated methylmalonic aciduria can be caused by pathogenic mutations in the
gene for methylmalonyl-CoA mutase or in the genes encoding enzymes involved in the …

A stop codon defect in methylmalonyl-CoA mutase (resulting in a truncated unstable protein)
accounts for up to 14% of mutations identified as causes of Methylmalonic aciduria. There …

The gene product of MMAA is required for the intracellular metabolism of cobalamin (Cbl).
Mutations in this gene lead to the cblA class of disorders, characterized by isolated …

Objectives In view of high incidence of methylmalonic aciduria (MMA) among South Indians,
we have performed clinical, biochemical and molecular genetic evaluation of fifteen patients …

There are limited treatment options for the metabolic disorder methylmalonic aciduria. The
disorder can be caused by nonsense mutations within the methylmalonyl-CoA mutase gene …