UPMC Children’s Team Publishes Case Report on Novel Genetic Variant for Glycerol Kinase Deficiency in a Case with Concurrent Hepatoblastoma
August 27, 2024
A multidisciplinary team from UPMC Children’s published a case report in Molecular Genetics and Metabolism Reports on a novel genetic variant responsible for a case glycerol kinase deficiency in a patient with a concurrent diagnosis of hepatoblastoma.
Contributing the case report were members of the Divisions of Pediatric Endocrinology, Hematology/Oncology, and Genetic and Genomic Medicine.
The patient was first diagnosed with hepatoblastoma at 9-months of age and subsequently was found to have glycerol kinase deficiency. Further genetic testing revealed a previously unknown x-linked variant – GK Ala469Va – as the cause of the GKD. This is also the first described case of GKD concurrent with hepatoblastoma. More research is needed to understand if the genetic variant responsible for the patient’s GKD also played a role in the development of the hepatoblastoma.
Read the entire case report and findings using the open access link below.
Study Reference
Filingen D, Mackey S, Soller H, Guarneri-Tragone, Cooper J, Escobar O, Bedayan JK. A Novel GK Ala469Val Variant Resulting in Glycerol Kinase Deficiency with Concurrent Hepatoblastoma: A Case Report. Mol Genet Metabol Rep. 2024; 38: 101058.
