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PYGL gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

PYGL gene

The PYGL gene provides instructions for the liver-specific enzyme responsible for breaking down glycogen to maintain energy levels in the body.

Normal Function

The PYGL gene provides instructions for making an enzyme called liver glycogen phosphorylase. This enzyme is found only in liver cells, where it breaks down glycogen into glucose-1-phosphate. This is subsequently converted into glucose, which serves as the primary energy source for most cells in the body.

Health Conditions Related to Genetic Changes

Glycogen storage disease type VI

At least 17 mutations in the PYGL gene have been found to cause glycogen storage disease type VI (GSDVI). These mutations result in a defective liver glycogen phosphorylase enzyme, which impairs the normal breakdown of glycogen. Consequently, liver cells cannot effectively use glycogen for energy, leading to impaired liver function and the clinical features of GSDVI.

Other Names for This Gene

  • glycogen phosphorylase, liver form
  • GSD6
  • phosphorylase, glycogen, liver
  • PYGL_HUMAN

Frequently Asked Questions

What are the common signs and symptoms of Glycogen Storage Disease Type VI (GSDVI), especially in children?::GSDVI primarily affects the liver. Common signs and symptoms, often appearing in infancy or early childhood, include an enlarged liver (hepatomegaly), low blood sugar (hypoglycemia) between meals, and poor growth. Children might also experience fatigue, muscle weakness, and elevated liver enzymes in blood tests.
How is Glycogen Storage Disease Type VI (GSDVI) diagnosed?::Diagnosis of GSDVI typically involves blood tests to check for hypoglycemia and elevated liver enzymes. A liver biopsy can show glycogen accumulation and reduced liver glycogen phosphorylase activity. Genetic testing for mutations in the PYGL gene is the most definitive way to confirm the diagnosis.
What are the dietary and management strategies for someone with Glycogen Storage Disease Type VI (GSDVI)?::Management of GSDVI primarily focuses on dietary adjustments to maintain stable blood glucose levels and prevent hypoglycemia. This often involves frequent, small meals rich in complex carbohydrates and sometimes a continuous overnight feeding regimen (e.g., cornstarch). Avoiding prolonged fasting is crucial. Regular monitoring of liver function and
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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