A novel frameshift mutation of malonyl-CoA decarboxylase deficiency: clinical signs and therapy response of a late-diagnosed case.

ABSTRACT: We evaluate the clinical findings and the treatment response of a late-diagnosed case with a novel homozygous insertion c.13_14insG (p.P6Afs*202) result in a frameshift mutation in MLYCD gene. Both cardiac and neurologic involvements were mild when compared to previously reported cases, and see low-fat/high-carbohydrate diet treatment is highly effective.

SUBMITTER: Ersoy M 

PROVIDER: S-EPMC5538191 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature