Glycogen storage disease due to liver phosphorylase kinase deficiency
Synonyms: GSD due to liver phosphorylase kinase deficiency | GSD type 9A | GSD type 9C | GSD type IXa | GSD type IXc | Glycogen storage disease type 9A | Glycogen storage disease type 9C | Glycogen storage disease type IXa | Glycogen storage disease type IXc | Glycogenosis due to liver phosphorylase kinase deficiency | Glycogenosis type 9A | Glycogenosis type 9C | Glycogenosis type IXa | Glycogenosis type IXc | XLG
Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly growth retardation and mild delay in motor development during childhood.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Glycogen storage disease due to liver phosphorylase kinase deficiency?
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