A novel 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 in a patient with concurrent hepatoblastoma, whose course was complicated by hypoglycemia.