Abstract
An unusual patient with Andersen disease (glycogenosis type IV) is presented, with only relatively mild clinical symptoms at the age of 8 years. The patient has a profound deficiency of glycogen-branching enzyme.
MeSH terms
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1,4-alpha-Glucan Branching Enzyme / deficiency
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Child
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Female
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Glycogen / metabolism
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Glycogen Storage Disease / metabolism*
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Glycogen Storage Disease Type IV / metabolism*
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Glycogen Storage Disease Type IV / pathology
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Humans
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Liver / enzymology
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Liver / pathology
Substances
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Glycogen
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1,4-alpha-Glucan Branching Enzyme