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Glycogen storage disease type VI is a type of glycogen storage disease caused by a deficiency in liver glycogen phosphorylase.
It is also known as "Hers' disease", after Henri G. Hers, who characterized it in 1959.[1][2]
Presentation
Patients generally have a benign course, and typically present with hepatomegaly[3] and growth retardation early in childhood. Mild hypoglycemia, hyperlipidemia, and hyperketosis may occur. Lactic acid and uric acid levels are normal.
References
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Inborn error of carbohydrate metabolism (including glycogen storage diseases) (E73-74, 271) |
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| Disaccharide catabolism |
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| Monosaccharide catabolism |
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| Monosaccharide transport |
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| Glycolysis |
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| Pyruvate catabolism |
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| Gluconeogenesis |
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| Glycogenesis |
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| Glycogenolysis |
GSD type II, Pompe's, glucosidase - GSD type III, Cori's, debranching - GSD type V, McArdle, glycogen phosphorylase/ GSD type VI, Hers', glycogen phosphorylase - GSD type I, von Gierke, glucose 6-phosphatase
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| Pentose phosphate pathway |
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| Other |
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