Glycogen Storage Disease Type VI (Hers)

Definition

Glycogen storage disease type VI is a metabolic disease characterized by liver phosphorylase enzyme deficiency, mild hepatomegaly, and hypoglycemia.

Symptoms

  • Mild hepatomegaly
  • Hypoglycemia
  • Growth retardation
  • Hyperlipidemia

Reasons

PYGL gene mutation.

Diagnosis

Liver biopsy, genetic testing.

Treatment

Frequent feeding.

Which Polyclinic Should You Apply To?

Metabolism Polyclinic

What to Do in an Emergency?

In case of hypoglycemia, emergency services should be consulted.

This page is for general information purposes only.