Adult-onset Repeat Rhabdomyolysis with a Very Long-chain Acyl-CoA Dehydrogenase Deficiency Due to Compound Heterozygous ACADVL Mutations

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a genetic disorder of fatty acid beta oxidation that is caused by a defect in ACADVL, which encodes VLCAD. The clinical presentation of VLCAD deficiency is heterogeneous, and either a delayed diagnosis or a misdiagnosis may sometimes occur...

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Autores principales: Fuseya, Yasuhiro, Sakurai, Takeyo, Miyahara, Jun-ichi, Sato, Kei, Kaji, Seiji, Saito, Yoshihiko, Takahashi, Makio, Nishino, Ichizo, Fukuda, Tokiko, Sugie, Hideo, Yamashita, Hirofumi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7691026/
https://www.ncbi.nlm.nih.gov/pubmed/32669490
http://dx.doi.org/10.2169/internalmedicine.4604-20
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author Fuseya, Yasuhiro
Sakurai, Takeyo
Miyahara, Jun-ichi
Sato, Kei
Kaji, Seiji
Saito, Yoshihiko
Takahashi, Makio
Nishino, Ichizo
Fukuda, Tokiko
Sugie, Hideo
Yamashita, Hirofumi
author_facet Fuseya, Yasuhiro
Sakurai, Takeyo
Miyahara, Jun-ichi
Sato, Kei
Kaji, Seiji
Saito, Yoshihiko
Takahashi, Makio
Nishino, Ichizo
Fukuda, Tokiko
Sugie, Hideo
Yamashita, Hirofumi
author_sort Fuseya, Yasuhiro
collection PubMed
description Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a genetic disorder of fatty acid beta oxidation that is caused by a defect in ACADVL, which encodes VLCAD. The clinical presentation of VLCAD deficiency is heterogeneous, and either a delayed diagnosis or a misdiagnosis may sometimes occur. We herein describe a difficult-to-diagnose case of the muscle form of adult-onset VLCAD deficiency with compound heterozygous ACADVL mutations including c.790A>G (p.K264E) and c.1246G>A (p.A416T).
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spelling pubmed-76910262020-12-03 Adult-onset Repeat Rhabdomyolysis with a Very Long-chain Acyl-CoA Dehydrogenase Deficiency Due to Compound Heterozygous ACADVL Mutations Fuseya, Yasuhiro Sakurai, Takeyo Miyahara, Jun-ichi Sato, Kei Kaji, Seiji Saito, Yoshihiko Takahashi, Makio Nishino, Ichizo Fukuda, Tokiko Sugie, Hideo Yamashita, Hirofumi Intern Med Case Report Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a genetic disorder of fatty acid beta oxidation that is caused by a defect in ACADVL, which encodes VLCAD. The clinical presentation of VLCAD deficiency is heterogeneous, and either a delayed diagnosis or a misdiagnosis may sometimes occur. We herein describe a difficult-to-diagnose case of the muscle form of adult-onset VLCAD deficiency with compound heterozygous ACADVL mutations including c.790A>G (p.K264E) and c.1246G>A (p.A416T). The Japanese Society of Internal Medicine 2020-07-14 2020-11-01 /pmc/articles/PMC7691026/ /pubmed/32669490 http://dx.doi.org/10.2169/internalmedicine.4604-20 Text en Copyright © 2020 by The Japanese Society of Internal Medicine https://creativecommons.org/licenses/by-nc-nd/4.0/ The Internal Medicine is an Open Access journal distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (https://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Fuseya, Yasuhiro
Sakurai, Takeyo
Miyahara, Jun-ichi
Sato, Kei
Kaji, Seiji
Saito, Yoshihiko
Takahashi, Makio
Nishino, Ichizo
Fukuda, Tokiko
Sugie, Hideo
Yamashita, Hirofumi
Adult-onset Repeat Rhabdomyolysis with a Very Long-chain Acyl-CoA Dehydrogenase Deficiency Due to Compound Heterozygous ACADVL Mutations
title Adult-onset Repeat Rhabdomyolysis with a Very Long-chain Acyl-CoA Dehydrogenase Deficiency Due to Compound Heterozygous ACADVL Mutations
title_full Adult-onset Repeat Rhabdomyolysis with a Very Long-chain Acyl-CoA Dehydrogenase Deficiency Due to Compound Heterozygous ACADVL Mutations
title_fullStr Adult-onset Repeat Rhabdomyolysis with a Very Long-chain Acyl-CoA Dehydrogenase Deficiency Due to Compound Heterozygous ACADVL Mutations
title_full_unstemmed Adult-onset Repeat Rhabdomyolysis with a Very Long-chain Acyl-CoA Dehydrogenase Deficiency Due to Compound Heterozygous ACADVL Mutations
title_short Adult-onset Repeat Rhabdomyolysis with a Very Long-chain Acyl-CoA Dehydrogenase Deficiency Due to Compound Heterozygous ACADVL Mutations
title_sort adult-onset repeat rhabdomyolysis with a very long-chain acyl-coa dehydrogenase deficiency due to compound heterozygous acadvl mutations
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7691026/
https://www.ncbi.nlm.nih.gov/pubmed/32669490
http://dx.doi.org/10.2169/internalmedicine.4604-20
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