{"title":"D-glyceric aciduria due to GLYCTK mutation: Disease or non-disease?","authors":"Sandra D.K. Kingma , Laura K.M. Steinbusch , Sietse M. Aukema , Margje Sinnema , Bianca Panis , Joost Nicolai , Estela Rubio-Gozalbo","doi":"10.1016/j.ymgmr.2024.101159","DOIUrl":null,"url":null,"abstract":"<div><div>D-glyceric aciduria (DGA) is caused by D-glycerate-2-kinase deficiency due to biallelic pathogenic variants in <em>GLYCTK.</em> 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 <em>GLYCTK</em> variant.</div></div>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"41 ","pages":"Article 101159"},"PeriodicalIF":1.8000,"publicationDate":"2024-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Molecular Genetics and Metabolism Reports","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2214426924001125","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
Abstract
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.
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.
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