Glycogen storage disease type 6
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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.
Codes
ICD10CM:
E74.09 – Other glycogen storage disease
SNOMEDCT:
29291001 – Glycogen storage disease, type VI
E74.09 – Other glycogen storage disease
SNOMEDCT:
29291001 – Glycogen storage disease, type VI
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Last Updated:01/16/2022
Glycogen storage disease type 6