glycogen storage disease IV

A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the GBE1 gene, which encodes the glycogen branching enzyme, on chromosome 3p12.

Signs and symptoms

• Polyhydramnios
• Decreased fetal movement
• Hepatic failure
• Tubulointerstitial fibrosis
• Flexion contracture
• Hypotonia
• Cirrhosis
• Esophageal varix
• Failure to thrive
• Portal hypertension

Also known as: Amylopectinosis; Branching-transferase deficiency glycogenosis; Glycogen storage disease 4; Glycogen storage disease, type IV; brancher deficiency glycogenosis