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

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‐...

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Detalles Bibliográficos
Autores principales: Ersoy, Melike, Akyol, Mehmet Bedir, Ceylaner, Serdar, Çakır Biçer, Nihan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5538191/
https://www.ncbi.nlm.nih.gov/pubmed/28781843
http://dx.doi.org/10.1002/ccr3.1013
Descripción
Sumario: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.

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