glycogen storage disease type-IV (Anderson type glycogen storage disease)

Pathology

• accumulation of an amylopectin-like polysaccharide
• portal cirrhosis

Genetics

• associated with defects in GBE1 gene

Clinical manifestations

• liver disease of childhood, generyally progesses to lethal hepatic cirrhosis
• usually death in infancy
• neuromuscular form that varies in onset (perinatal, congenital, juvenile, or adult) & severity
• neuromuscular perinatal glycogen storage disease type 4 is associated with non-immune hydrops fetalis

Laboratory

• normal response of plasma glucose to IM glucagon

Management

• only liver transplantation prevents progression of disease

More general terms

• glycogen storage disease (glycogenosis)

Additional terms

• 1,4-alpha-glucan-branching enzyme (glycogen-branching enzyme, brancher enzyme, GBE1)

Database

• OMIM: https://mirror.omim.org/entry/232500
• OMIM: https://mirror.omim.org/entry/236750