congenital disorder of glycosylation type IIw

A congenital disorder of glycosylation type II that is characterized by liver dysfunction, coagulation deficiencies, and profound abnormalities in N-glycosylation of serum specific proteins and that has_material_basis_in heterozygous mutation in the G6PT1 gene

A congenital disorder of glycosylation type II that is characterized by liver dysfunction, coagulation deficiencies, and profound abnormalities in N-glycosylation of serum specific proteins and that has_material_basis_in heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23.

Signs and symptoms

• Reduced factor XII activity
• Strabismus
• Elevated circulating alkaline phosphatase concentration
• Hypotonia
• Gastroesophageal reflux
• Type II transferrin isoform profile
• Type I diabetes mellitus
• Abnormal protein N-linked glycosylation
• Moderate albuminuria
• Reduced factor XI activity