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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

Related

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

General

glycogen storage disease (glycogenosis)

Properties

DEFICIENT-PROTEIN: 1,4-alpha-glucan-branching enzyme MOTIF: Tyr phosphorylation site {Y173} tyrosine residue {Y251} aspartate residue {D286} histidine residue {H291} arginine residue {R355} aspartate residue {D357} glutamate residue {E412} histidine residue {H480} aspartate residue {D481}

Database Correlations

OMIM correlations

References

  1. Clinical Diagnosis & Management by Laboratory Methods, J.B. Henry (ed), W.B. Saunders Co., Philadelphia, PA. 1991, pg 185
  2. UniProt :accession Q04446