glycogen storage disease Ic

A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. G6PT1 is also the site of the defect in glycogen storage disea

A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. G6PT1 is also the site of the defect in glycogen storage disease Ib.

Signs and symptoms

• Hepatomegaly
• Hypoglycemia
• Lactic acidosis
• Inflammation of the large intestine
• Cyclically decreased total neutrophil count
• Stomatitis
• Recurrent upper respiratory tract infections
• Hepatoblastoma
• Hyperlipidemia
• Renal insufficiency