[A case with cytochrome C oxidase deficiency caused by COX10 gene variation].

Szczegóły

Tytuł:: [A case with cytochrome C oxidase deficiency caused by COX10 gene variation].
Autorzy:: Sun Y; Department of Neurology, Kunming Children's Hospital, Kunming 650000, China.
Fang JH; Department of Gastroenterology, Kunming Children's Hospital, Kunming 650000, China.
Wang CX; Department of Neurology, Kunming Children's Hospital, Kunming 650000, China.
Wang HP; Department of Neurology, Kunming Children's Hospital, Kunming 650000, China.
Duan LF; Department of Neurology, Kunming Children's Hospital, Kunming 650000, China.
Wang ZH; Department of Neurology, Kunming Children's Hospital, Kunming 650000, China.
Zhang X; Department of Neurology, Kunming Children's Hospital, Kunming 650000, China.
Źródło:: Zhonghua er ke za zhi = Chinese journal of pediatrics [Zhonghua Er Ke Za Zhi] 2021 Jul 02; Vol. 59 (7), pp. 604-606.
Typ publikacji:: Case Reports; Journal Article
Język:: Chinese
Imprint Name(s):: Original Publication: Beijing : Chinese Medical Association, 1950
MeSH Terms:: Alkyl and Aryl Transferases*
Cytochrome-c Oxidase Deficiency*
Electron Transport Complex IV/genetics ; Electron Transport Complex IV/metabolism ; Humans ; Membrane Proteins/metabolism
Contributed Indexing:: Local Abstract: [Publisher, Chinese] 患儿　女，3月龄，因“喂养困难、体重不增3个月，发现重度贫血1 d”就诊，患儿生后1 d起病，以喂养困难、肌张力低、体重不增、发育迟缓为主要临床表现，病情进行性加重，出现输血依赖性贫血、高乳酸血症，于8月龄死亡。基因检查示COX10基因存在c.674C>T（p.Pro225Leu）纯合变异，父母为杂合子，诊断为COX10基因变异相关细胞色素c氧化酶缺陷症。.
Substance Nomenclature:: 0 (Membrane Proteins)
EC 1.9.3.1 (COX10 protein, human)
EC 1.9.3.1 (Electron Transport Complex IV)
EC 2.5.- (Alkyl and Aryl Transferases)
Entry Date(s):: Date Created: 20210818 Date Completed: 20210819 Latest Revision: 20220531
Update Code:: 20240104
DOI:: 10.3760/cma.j.cn112140-20201116-01032
PMID:: 34405646
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