Glycogen Storage Disease Type 6
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Glycogen Storage Disease Type 6 Overview

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Learn About Glycogen Storage Disease Type 6

What is the definition of Glycogen Storage Disease Type 6?
Glycogen storage disease type 6 (GSD6) is a genetic disease in which the liver cannot process sugar properly. The liver is responsible for breaking down a substance called glycogen. Glycogen is the stored form of sugar that is made by breaking down carbohydrates. When the liver cannot break down glycogen properly it causes a buildup that is damaging to the body. Symptoms of the disease usually begin in infancy or childhood and include low blood sugar (hypoglycemia), an enlarged liver (hepatomegaly), and an increase in the amount of lactic acid in the blood (lactic acidosis). These symptoms are especially likely to occur when an individual does not eat for a long time. Symptoms tend to improve as people with this disease get older. The disease is especially common in the Mennonite population. GSD6 is caused by genetic changes (changes) in the PYGL gene. The disease is inherited in an autosomal recessive manner. The diagnosis is made based on genetic testing of the PYGL gene. A liver biopsy that tests the function of liver glycogen phosphorylase may be necessary if the results of the genetic testing are inconclusive.
What are the alternative names for Glycogen Storage Disease Type 6?
  • Glycogen storage disease type 6
  • GSD6
  • Glycogen storage disease 6
  • Hers disease
  • Phosphorylase deficiency glycogen-storage disease of liver
Who are the top Glycogen Storage Disease Type 6 Local Doctors?
Elite in Glycogen Storage Disease Type 6
Elite in Glycogen Storage Disease Type 6
Referral may be required
Freiburg, BW, DE 

Sarah Grunert practices practicing medicine in Freiburg, Germany. Ms. Grunert is rated as an Elite expert by MediFind in the treatment of Glycogen Storage Disease Type 6. She is also highly rated in 33 other conditions, according to our data. Her clinical expertise encompasses Mitochondrial Trifunctional Protein Deficiency, Glycogen Storage Disease Type 6, Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency, and 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency.

Advanced in Glycogen Storage Disease Type 6
Advanced in Glycogen Storage Disease Type 6
Referral may be required

University Of Arizona Cancer Center

3838 North Campbell Avenue, Building 1, 
Tucson, AZ 
520-694-2873
Languages Spoken:
English, Hindi
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Accepting New Patients

I enjoy spending time with friends and family. Dr. Khurana is rated as an Advanced provider by MediFind in the treatment of Glycogen Storage Disease Type 6. He is also highly rated in 8 other conditions, according to our data. His clinical expertise encompasses Non-Hodgkin Lymphoma, Acute Myeloid Leukemia (AML), Acute Myeloblastic Leukemia without Maturation, Bone Marrow Transplant, and Bone Marrow Aspiration. Dr. Khurana is board certified in American Board Of Internal Medicine/Medical Oncology, American Board Of Internal Medicine, and American Board Of Internal Medicine/Hematology. Dr. Khurana is currently accepting new patients.

 
 
 
 
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Distinguished in Glycogen Storage Disease Type 6
Distinguished in Glycogen Storage Disease Type 6
Referral may be required
Hongo, JP 

Yoshiya Horimoto practices practicing medicine in Hongo, Japan. Horimoto is rated as a Distinguished expert by MediFind in the treatment of Glycogen Storage Disease Type 6. They are also highly rated in 5 other conditions, according to our data. Their clinical expertise encompasses Breast Cancer, Glycogen Storage Disease Type 6, Metastatic Brain Tumor, Lung Metastases, and Mastectomy.

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What are the latest Glycogen Storage Disease Type 6 Clinical Trials?
GSD VI and GSD IX Natural History
GSD VI and GSD IX Natural History
Enrollment Status: Recruiting
Publish Date: May 05, 2026
Intervention Type: Other

Summary: Collection and review of clinical information related to Glycogen Storage Disease Type VI (GSD VI) OR Glycogen Storage Disease Type IX (GSD IX) generated during clinic visits.

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Ex Vivo T-Cell Depletion of Mobilized Peripheral Blood Stem Cells Via CD34-Selection (EXCESS)
Ex Vivo T-Cell Depletion of Mobilized Peripheral Blood Stem Cells Via CD34-Selection (EXCESS)
Enrollment Status: Recruiting
Publish Date: December 03, 2025
Intervention Type: Device
Study Phase: Not Applicable

Summary: Participants are being asked to take part in this study because treatment of his or her disease requires a stem cell transplant. Stem cells or mother cells are the source of normal blood cells and lead to recovery of blood counts after bone marrow transplantation. Unfortunately, there is not a perfectly matched stem cell donor (like a sister or brother) for the participant and his or her disease d...

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Who are the sources who wrote this article ?

Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center