Domenic Filingeri , Sarah Mackey , Haley Soller , Alissa Guarneri-Tragone , James Cooper , Oscar Escobar , Jirair K. Bedoyan
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引用次数: 0
摘要
甘油激酶缺乏症(GKD)是一种罕见的 X 连锁病,患者体内的甘油不能被磷酸化为甘油-3-磷酸,而甘油-3-磷酸是葡萄糖生成过程中的关键成分。临床表现差异很大。我们在一名并发肝母细胞瘤的患者身上发现了一种新的GK责任变异型,其病程因低血糖而变得复杂。肝母细胞瘤以前从未描述过 GKD,这凸显了进一步研究 GKD 及其在某些形式肝母细胞瘤发病机制中潜在作用的必要性。
A novel GK Ala469Val variant resulting in glycerol kinase deficiency with concurrent hepatoblastoma: A case report
Glycerol kinase deficiency (GKD) is a rare X-linked condition where glycerol cannot be phosphorylated to glycerol-3-phosphate, a key component of gluconeogenesis. Clinical presentation varies widely. We present a novel variant of the responsible GK in a patient with concurrent hepatoblastoma, whose course was complicated by hypoglycemia. Hepatoblastoma has not previously been described with GKD, highlighting the need for further research into GKD and its potential role in the pathogenesis of some forms of hepatoblastoma.
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.