Glycogen Storage Disease Type IXb in a 3-y-old Child

Summary: This narrative review provides an overview of less studied forms of glycogen storage diseases (GSDs) involving muscular and renal tubular involvement, dyslipidemia, and osteopenia. Diagnoses are based on clinical manifestations and laboratory tests, with molecular analysis often necessary to distinguish between different forms. Early diagnosis is crucial for controlling the disease, improving quality of life, and prognosis.