MCAD deficiency caused by compound heterozygous pathogenic variants in ACADM

Medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency is an autosomal recessive disease caused by biallelic pathogenic ACADM variants. We report a case of an asymptomatic Japanese girl with MCAD deficiency caused by compound heterozygous pathogenic variants (NM_000016.5:c.1040G > T (p.Gly3...

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Autores principales: Nohara, Fumikatsu, Tajima, Go, Sasai, Hideo, Makita, Yoshio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8761748/
https://www.ncbi.nlm.nih.gov/pubmed/35034956
http://dx.doi.org/10.1038/s41439-021-00177-3
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author Nohara, Fumikatsu
Tajima, Go
Sasai, Hideo
Makita, Yoshio
author_facet Nohara, Fumikatsu
Tajima, Go
Sasai, Hideo
Makita, Yoshio
author_sort Nohara, Fumikatsu
collection PubMed
description Medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency is an autosomal recessive disease caused by biallelic pathogenic ACADM variants. We report a case of an asymptomatic Japanese girl with MCAD deficiency caused by compound heterozygous pathogenic variants (NM_000016.5:c.1040G > T (p.Gly347Val) and c.449_452delCTGA (p.Thr150ArgfsTer4)). Because the MCAD residual activity in lymphocytes of the patient was below the limit of quantification, both variants are likely to cause complete loss of MCAD enzymatic activity.
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spelling pubmed-87617482022-01-26 MCAD deficiency caused by compound heterozygous pathogenic variants in ACADM Nohara, Fumikatsu Tajima, Go Sasai, Hideo Makita, Yoshio Hum Genome Var Data Report Medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency is an autosomal recessive disease caused by biallelic pathogenic ACADM variants. We report a case of an asymptomatic Japanese girl with MCAD deficiency caused by compound heterozygous pathogenic variants (NM_000016.5:c.1040G > T (p.Gly347Val) and c.449_452delCTGA (p.Thr150ArgfsTer4)). Because the MCAD residual activity in lymphocytes of the patient was below the limit of quantification, both variants are likely to cause complete loss of MCAD enzymatic activity. Nature Publishing Group UK 2022-01-17 /pmc/articles/PMC8761748/ /pubmed/35034956 http://dx.doi.org/10.1038/s41439-021-00177-3 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Data Report
Nohara, Fumikatsu
Tajima, Go
Sasai, Hideo
Makita, Yoshio
MCAD deficiency caused by compound heterozygous pathogenic variants in ACADM
title MCAD deficiency caused by compound heterozygous pathogenic variants in ACADM
title_full MCAD deficiency caused by compound heterozygous pathogenic variants in ACADM
title_fullStr MCAD deficiency caused by compound heterozygous pathogenic variants in ACADM
title_full_unstemmed MCAD deficiency caused by compound heterozygous pathogenic variants in ACADM
title_short MCAD deficiency caused by compound heterozygous pathogenic variants in ACADM
title_sort mcad deficiency caused by compound heterozygous pathogenic variants in acadm
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8761748/
https://www.ncbi.nlm.nih.gov/pubmed/35034956
http://dx.doi.org/10.1038/s41439-021-00177-3
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