[Triose phosphate isomerase deficiency: a rare erythrocyte enzymopathy with a poor prognosis].

IF 0.4 4区 医学 Q4 MEDICAL LABORATORY TECHNOLOGY
Mélissa Julien, Calina Todosi, Fanny Fouyssac, Jean-François Lesesve, Delphine Gérard, Julien Perrin
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引用次数: 0

Abstract

Triose phosphate isomerase (TPI) is a crucial enzyme for glycolysis. TPI deficiency is an autosomal recessive metabolic disease described in 1965, which remains exceptional by its rarity (less than 100 cases described worldwide), but by its extreme severity. Indeed, it is characterized by a chronic hemolytic anemia, an increased susceptibility to infections and especially, a progressive neurological degeneration which leads to death in early childhood for the majority of cases. We report in our observation the history of diagnosis and clinical course of monozygotic twins born at 32 WA with triose phosphate isomerase deficiency.

磷酸三糖异构酶缺乏症:一种罕见的红细胞酶病,预后不良。
磷酸三糖异构酶(TPI)是糖酵解的重要酶。TPI缺乏症是一种常染色体隐性代谢性疾病,于1965年被描述,其罕见性(全世界不到100例)仍然是例外,但其极端严重。事实上,它的特点是慢性溶血性贫血,对感染的易感性增加,特别是进行性神经退化,导致大多数病例在幼儿期死亡。我们在我们的观察诊断史和临床病程的同卵双胞胎出生在32 WA与三磷酸异构体酶缺乏症。
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来源期刊
Annales de biologie clinique
Annales de biologie clinique 医学-医学:研究与实验
CiteScore
0.80
自引率
20.00%
发文量
53
审稿时长
6-12 weeks
期刊介绍: Multidisciplinary information with direct relevance to everyday practice Annales de Biologie Clinique, the official journal of the French Society of Clinical Biology (SFBC), supports biologists in areas including continuing education, laboratory accreditation and technique validation. With original articles, abstracts and accounts of everyday practice, the journal provides details of advances in knowledge, techniques and equipment, as well as a forum for discussion open to the entire community.
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