Glycogen storage disease type IV
Definition:
Glycogen storage disease type IV (GSD-IV), also known as Andersen disease, is an autosomal recessive disorder of glycogen metabolism. GSD-IV is caused by mutations in the GBE1 gene, which encodes the glycogen branching enzyme. The typical presentation is liver disease of childhood, progressing to lethal cirrhosis.
References:
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[1]. A Alegria, et al. Glycogen storage disease type IV presenting as hydrops fetalis. J Inherit Metab Dis. 1999 May;22(3):330-2. [Content Brief]
[2]. C Bruno, et al. Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). Neurology. 2004 Sep 28;63(6):1053-8. [Content Brief]
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