Disease

Glycogen storage disease VI1, 2

Gene

PYGL

Inheritance AR
Current Treatments high-protein diet with cornstarch supplementation
Evidence for Treatment guideline3
Non-Molecular Testing Availability yes
Non-Molecular Test glycogen phosphorylase activity in frozen liver biopsy tissue, leukocytes, and erythrocytes4
Disease Frequency (per 100,000) 1.361
Genes Included in Disease Frequency PYGL
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Glycogen+Storage+Disease+VI&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
Privacy Overview

This website uses cookies so that we can provide you with the best user experience possible. Cookie information is stored in your browser and performs functions such as recognising you when you return to our website and helping our team to understand which sections of the website you find most interesting and useful.