glycogen storage disease Ic (DOID:0081331)
Alliance: disease page
Alt IDs: OMIM:232240
Definition: 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.