三名CACT缺乏症患者中的一种新型纯合错义突变：临床和尸检数据。
A novel homozygous missense mutation in three CACT-deficient patients: clinical and autopsy data.
作者信息
Chinen Yasutsugu, Yanagi Kumiko, Nakamura Sadao, Nakayama Noriko, Kamiya Motoko, Nakayashiro Mami, Kaname Tadashi, Naritomi Kenji, Nakanishi Koichi
机构信息
1Department of Child Health and Welfare (Pediatrics), Graduate School of Medicine, University of the Ryukyus, Nishihara, Okinawa Japan.
2Genetic Counseling Room, University of the Ryukyus Hospital, Nishihara, Okinawa Japan.
出版信息
Hum Genome Var. 2020 Apr 16;7:11. doi: 10.1038/s41439-020-0098-y. eCollection 2020.
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 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.
肉碱-脂酰肉碱转位酶（CACT）缺乏症是线粒体中肉碱穿梭系统的脂肪酸β氧化障碍，在儿童期死亡率很高。我们评估了三名新生儿期起病的CACT缺乏症患者，包括两名兄弟姐妹，发现他们基因内存在相同的纯合错义突变p.Arg275Gln。一名患者在26个月时死于低血糖和心律失常；其病理尸检显示心脏中的线粒体增多且增大，而肝脏中则没有。
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