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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?
Hematology Oncology | Oncology | Hematology
Hematology Oncology | Oncology | Hematology

University Of Kansas Hospital Authority

2650 Shawnee Mission Pkwy, 
Westwood, KS 
 (189.5 mi)
Languages Spoken:
English, Georgian, Hindi, Kannada
Accepting New Patients
Offers Telehealth

Anup Kasi-Loknath is a Hematologist Oncology specialist and an Oncologist in Westwood, Kansas. Dr. Kasi-Loknath and is rated as an Advanced provider by MediFind in the treatment of Glycogen Storage Disease Type 6. His top areas of expertise are Colorectal Cancer, Familial Colorectal Cancer, Lynch Syndrome, and Familial Pancreatic Cancer. Dr. Kasi-Loknath is currently accepting new patients.

 
 
 
 
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What are the latest Glycogen Storage Disease Type 6 Clinical Trials?
A Pilot Study of Safety, Tolerability, and Immunological Effects of SurVaxM in Pediatric Patients With Progressive or Relapsed Medulloblastoma, High Grade Glioma, Ependymoma and Newly Diagnosed Diffuse Intrinsic Pontine Glioma

Summary: Patients will receive a vaccine called SurVaxM on this study. While vaccines are usually thought of as ways to prevent diseases, vaccines can also be used to treat cancer. SurVaxM is designed to tell the body's immune system to look for tumor cells that express a protein called survivin and destroy them. The survivin protein can be found on up to 95% of glioblastomas and other types of cancer but ...

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Ex Vivo T-Cell Depletion of Mobilized Peripheral Blood Stem Cells Via CD34-Selection (EXCESS)

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