glycogen storage disease XI

A glycogen storage disease that has_material_basis_in homozygous mutation in the LDHA gene, which encodes lactate dehydrogenase, on chromosome 11p15.

Signs and symptoms

• Elevated circulating creatine kinase activity
• Muscle stiffness
• Rhabdomyolysis
• Increased circulating pyruvate concentration
• Renal insufficiency
• Rigidity
• Increased circulating lactate concentration
• Muscle spasm
• Myoglobinuria
• Myalgia

Also known as: lactate dehydrogenase A deficiency