GLYCTK突变导致的D-甘油酸尿症：疾病还是非疾病？

IF 1.8 4区医学 Q3 GENETICS & HEREDITY Molecular Genetics and Metabolism Reports Pub Date : 2024-11-12 DOI:10.1016/j.ymgmr.2024.101159

Sandra D.K. Kingma , Laura K.M. Steinbusch , Sietse M. Aukema , Margje Sinnema , Bianca Panis , Joost Nicolai , Estela Rubio-Gozalbo

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引用次数: 0

摘要

D 型甘油酸尿症（DGA）是由于 GLYCTK 双重致病变体导致 D 型甘油酸-2-激酶缺乏引起的。它与不同的神经症状有关。DGA 极其罕见，目前仅发现 7 例先前描述过的患者存在基因变异。我们报告了一名新的 DGA 患者和一个新的同基因 GLYCTK 变异体。

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D-glyceric aciduria due to GLYCTK mutation: Disease or non-disease?

D-glyceric aciduria (DGA) is caused by D-glycerate-2-kinase deficiency due to biallelic pathogenic variants in GLYCTK. It is associated with variable neurological symptoms. DGA is extremely rare, and genetic variants are only known in 7 previously described patients. We report a new patient with DGA and a novel homozygous GLYCTK variant.

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来源期刊

Molecular Genetics and Metabolism Reports Biochemistry, Genetics and Molecular Biology-Endocrinology

CiteScore

4.00

自引率

5.30%

发文量

105

审稿时长

33 days

期刊介绍： Molecular Genetics and Metabolism Reports is an open access journal that publishes molecular and metabolic reports describing investigations that use the tools of biochemistry and molecular biology for studies of normal and diseased states. In addition to original research articles, sequence reports, brief communication reports and letters to the editor are considered.