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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

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

Ersoy Melike M Akyol Mehmet Bedir MB Ceylaner Serdar S Çakır Biçer Nihan N

Clinical case reports 20170628 8

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. ...[more]

PMID: 28781843

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2024-10-26 | GSE186973 | GEO

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