glycogen storage disease Ib

info · Genetic

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.

Signs and symptoms

Hepatomegaly
Recurrent bacterial infections
Splenomegaly
Inflammation of the large intestine
Reduced hepatic glucose-6-phosphate translocase activity
Pancreatic fibrosis
Decreased total neutrophil count
Lipemia retinalis
Short stature
Hyperlipidemia