glycerol kinase deficiency

An inherited metabolic disorder characterized_by wide range of phenotypic variability; patients can have severe metabolic and CNS abnormalities, while others possess hyperglycerolemia and glyceroluria with no other apparent phenotype and that has_material_basi

An inherited metabolic disorder characterized_by wide range of phenotypic variability; patients can have severe metabolic and CNS abnormalities, while others possess hyperglycerolemia and glyceroluria with no other apparent phenotype and that has_material_basis_in mutation in the GK gene on chromosome Xp21.

Signs and symptoms

• Nausea
• Metabolic acidosis
• Myalgia
• Vomiting
• Increased circulating lactate concentration
• Increased urinary glycerol
• Elevated circulating glycerol concentration
• Reduced glycerol kinase activity in cultured fibroblasts
• Adrenal insufficiency
• Global developmental delay