Filingeri Domenic, Mackey Sarah, Soller Haley, Guarneri-Tragone Alissa, Cooper James, Escobar Oscar, Bedoyan Jirair K
Division of Pediatric Endocrinology, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh and University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Division of Hematology-Oncology, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh and University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Mol Genet Metab Rep. 2024 Jan 23;38:101058. doi: 10.1016/j.ymgmr.2024.101058. eCollection 2024 Mar.
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 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.
甘油激酶缺乏症（GKD）是一种罕见的X连锁疾病，在该疾病中甘油无法磷酸化为甘油-3-磷酸，而甘油-3-磷酸是糖异生的关键成分。临床表现差异很大。我们报告了一名同时患有肝母细胞瘤的患者中致病基因的一种新变体，该患者的病程因低血糖而复杂化。此前尚未有肝母细胞瘤与GKD相关的描述，这凸显了对GKD及其在某些形式肝母细胞瘤发病机制中潜在作用进行进一步研究的必要性。
