Definition
Glycogen storage disease type IX is a metabolic disease characterized by phosphorylase kinase deficiency, which is accompanied by hepatomegaly and growth retardation.
Symptoms
- Hepatomegaly
- Growth retardation
- Hypoglycemia
- Hyperlipidemia
Reasons
PHKA2, PHKB, PHKG2 gene mutations.
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.