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
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author Ersoy, Melike
Akyol, Mehmet Bedir
Ceylaner, Serdar
Çakır Biçer, Nihan
author_facet Ersoy, Melike
Akyol, Mehmet Bedir
Ceylaner, Serdar
Çakır Biçer, Nihan
author_sort Ersoy, Melike
collection PubMed
description 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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spelling pubmed-55381912017-08-04 A novel frameshift mutation of malonyl‐CoA decarboxylase deficiency: clinical signs and therapy response of a late‐diagnosed case Ersoy, Melike Akyol, Mehmet Bedir Ceylaner, Serdar Çakır Biçer, Nihan Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2017-06-28 /pmc/articles/PMC5538191/ /pubmed/28781843 http://dx.doi.org/10.1002/ccr3.1013 Text en © 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs (http://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Ersoy, Melike
Akyol, Mehmet Bedir
Ceylaner, Serdar
Çakır Biçer, Nihan
A novel frameshift mutation of malonyl‐CoA decarboxylase deficiency: clinical signs and therapy response of a late‐diagnosed case
title A novel frameshift mutation of malonyl‐CoA decarboxylase deficiency: clinical signs and therapy response of a late‐diagnosed case
title_full A novel frameshift mutation of malonyl‐CoA decarboxylase deficiency: clinical signs and therapy response of a late‐diagnosed case
title_fullStr A novel frameshift mutation of malonyl‐CoA decarboxylase deficiency: clinical signs and therapy response of a late‐diagnosed case
title_full_unstemmed A novel frameshift mutation of malonyl‐CoA decarboxylase deficiency: clinical signs and therapy response of a late‐diagnosed case
title_short A novel frameshift mutation of malonyl‐CoA decarboxylase deficiency: clinical signs and therapy response of a late‐diagnosed case
title_sort novel frameshift mutation of malonyl‐coa decarboxylase deficiency: clinical signs and therapy response of a late‐diagnosed case
topic Case Reports
url 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
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