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

資料種別:

論文（リポジトリ）

責任表示:

Chinen, Yasutsugu ; Yanagi, Kumiko ; Nakamura, Sadao ; Nakayama, Noriko ; Kamiya, Motoko ; Nakayashiro, Mami ; Kaname, Tadashi ; Naritomi, Kenji ; Nakanishi, Koichi

言語:

英語

出版情報:

Springer Nature, 2020-04-16

著者名:

Chinen, Yasutsugu

Yanagi, Kumiko

Nakamura, Sadao

Nakayama, Noriko

Kamiya, Motoko

Nakayashiro, Mami

Kaname, Tadashi

Naritomi, Kenji

Nakanishi, Koichi

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掲載情報:

Human Genome Variation

ISSN:

2054-345X      

巻:

7

バージョン:

VoR

概要:

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 ne … onatal-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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URL:

http://hdl.handle.net/20.500.12000/47023