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Glycogen storage disease type 6
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Glycogen storage disease type 6

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Contributors: Marilyn Augustine MD
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Synopsis

Glycogen storage disease type 6 (Hers disease) is an autosomal recessive disease predominantly affecting liver function. Mutations on the liver isoform of the glycogen phosphorylase gene, PYGL, create defects that cause a buildup of glycogen in the liver. Most cases will present by early childhood. Common findings include hepatomegaly and growth retardation. Abnormal laboratory findings include hypoglycemia, lactic acidosis, and hyperlipidemia. A special diet can be prescribed to maintain regular glucose levels.

For more information, see OMIM.

Codes

ICD10CM:
E74.09 – Other glycogen storage disease

SNOMEDCT:
29291001 – Glycogen storage disease, type VI

Differential Diagnosis & Pitfalls

Other glycogen storage disease types (eg, types 1, 3, 9)

Best Tests

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References

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Last Updated: 03/29/2017
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Glycogen storage disease type 6
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Glycogen storage disease type 6 : Hepatomegaly, Hypoglycemia
Copyright © 2018 VisualDx®. All rights reserved.