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