A novel frameshift mutation of malonyl‐CoA decarboxylase deficiency: clinical signs and therapy response of a late‐diagnosed case. Issue 8 (28th June 2017)

• Record Type: Journal Article
• Authors: Ersoy, Melike; Akyol, Mehmet Bedir; Ceylaner, Serdar; Çakır Biçer, Nihan
• Is Part Of: Clinical case reports. Volume 5:Issue 8(2017)
• Page Start: 1284
• Page End: 1288
• Publication Date: 2017-06-28
• Subjects: Diet therapy -- malonyl‐CoA decarboxylase deficiency -- MLYCD gene -- noncompaction cardiomyopathy; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.1013
• Languages: English
• ISSNs: 2050-0904

Abstract

Key Clinical Message: 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. 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.