A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data

Carnitine-acylcarnitine translocase (CACT) deficiency is a fatty acid ß-oxidation disorder of the carnitine shuttle in mitochondria, with a high mortality rate in childhood. We evaluated three patients, including two siblings, with neonatal-onset CACT deficiency and revealed identical homozygous mis...

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Autores principales: Chinen, Yasutsugu, Yanagi, Kumiko, Nakamura, Sadao, Nakayama, Noriko, Kamiya, Motoko, Nakayashiro, Mami, Kaname, Tadashi, Naritomi, Kenji, Nakanishi, Koichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7162975/
https://www.ncbi.nlm.nih.gov/pubmed/32337051
http://dx.doi.org/10.1038/s41439-020-0098-y
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author Chinen, Yasutsugu
Yanagi, Kumiko
Nakamura, Sadao
Nakayama, Noriko
Kamiya, Motoko
Nakayashiro, Mami
Kaname, Tadashi
Naritomi, Kenji
Nakanishi, Koichi
author_facet Chinen, Yasutsugu
Yanagi, Kumiko
Nakamura, Sadao
Nakayama, Noriko
Kamiya, Motoko
Nakayashiro, Mami
Kaname, Tadashi
Naritomi, Kenji
Nakanishi, Koichi
author_sort Chinen, Yasutsugu
collection PubMed
description Carnitine-acylcarnitine translocase (CACT) deficiency is a fatty acid ß-oxidation disorder of the carnitine shuttle in mitochondria, with a high mortality rate in childhood. We evaluated three patients, including two siblings, with neonatal-onset CACT deficiency and revealed identical homozygous missense mutations of p.Arg275Gln within the SLC25A20 gene. One patient died from hypoglycemia and arrhythmia at 26 months; his pathological autopsy revealed increased and enlarged mitochondria in the heart but not in the liver.
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spelling pubmed-71629752020-04-24 A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data Chinen, Yasutsugu Yanagi, Kumiko Nakamura, Sadao Nakayama, Noriko Kamiya, Motoko Nakayashiro, Mami Kaname, Tadashi Naritomi, Kenji Nakanishi, Koichi Hum Genome Var Data Report Carnitine-acylcarnitine translocase (CACT) deficiency is a fatty acid ß-oxidation disorder of the carnitine shuttle in mitochondria, with a high mortality rate in childhood. We evaluated three patients, including two siblings, with neonatal-onset CACT deficiency and revealed identical homozygous missense mutations of p.Arg275Gln within the SLC25A20 gene. One patient died from hypoglycemia and arrhythmia at 26 months; his pathological autopsy revealed increased and enlarged mitochondria in the heart but not in the liver. Nature Publishing Group UK 2020-04-16 /pmc/articles/PMC7162975/ /pubmed/32337051 http://dx.doi.org/10.1038/s41439-020-0098-y Text en © The Author(s) 2020 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/.
spellingShingle Data Report
Chinen, Yasutsugu
Yanagi, Kumiko
Nakamura, Sadao
Nakayama, Noriko
Kamiya, Motoko
Nakayashiro, Mami
Kaname, Tadashi
Naritomi, Kenji
Nakanishi, Koichi
A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data
title A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data
title_full A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data
title_fullStr A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data
title_full_unstemmed A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data
title_short A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data
title_sort novel homozygous missense slc25a20 mutation in three cact-deficient patients: clinical and autopsy data
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7162975/
https://www.ncbi.nlm.nih.gov/pubmed/32337051
http://dx.doi.org/10.1038/s41439-020-0098-y
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