A Novel Ala469Val Variant Resulting in Glycerol Kinase Deficiency with Concurrent Hepatoblastoma: A Case Report

Overview

Journal Mol Genet Metab Rep

Specialty Endocrinology

Date 2024 Mar 12

PMID 38469098

Authors

Domenic Filingeri

Sarah Mackey

Haley Soller

Alissa Guarneri-Tragone

James Cooper

Oscar Escobar

Jirair K Bedoyan

Affiliations

Soon will be listed here.

Abstract

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.

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