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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?
Advanced in Glycogen Storage Disease Type 6
Internal Medicine
Advanced in Glycogen Storage Disease Type 6
Internal Medicine

Newport Mesa Medical Group, Inc

275 Victoria St, Suite 1e, 
Costa Mesa, CA 
 (17.0 mi)
Languages Spoken:
English

Munazza Khan is an Internal Medicine provider in Costa Mesa, California. Dr. Khan and is rated as an Advanced provider by MediFind in the treatment of Glycogen Storage Disease Type 6. Her top areas of expertise are Glycogen Storage Disease Type 6, Stroke, Oligodendroglioma, and Relapsing Multiple Sclerosis (RMS).

Advanced in Glycogen Storage Disease Type 6
Hematology Oncology | Hematology | Oncology
Advanced in Glycogen Storage Disease Type 6
Hematology Oncology | Hematology | Oncology

Uc Regents

101 The City Dr S, 
Orange, CA 
 (21.8 mi)
Languages Spoken:
English

Deepa Jeyakumar is a Hematologist Oncology specialist and a Hematologist in Orange, California. Dr. Jeyakumar and is rated as an Advanced provider by MediFind in the treatment of Glycogen Storage Disease Type 6. Her top areas of expertise are Acute Myeloid Leukemia (AML), Acute Lymphoblastic Leukemia (ALL), Chronic T-Cell Leukemia (CTCL), Bone Marrow Aspiration, and Bone Marrow Transplant.

 
 
 
 
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Advanced in Glycogen Storage Disease Type 6
Internal Medicine
Advanced in Glycogen Storage Disease Type 6
Internal Medicine

Pih Health Physicians

12401 Washington Blvd, Suite 100, 
Whittier, CA 
 (37.3 mi)
Languages Spoken:
English

Joseph Malhis is an Internal Medicine provider in Whittier, California. Dr. Malhis and is rated as an Advanced provider by MediFind in the treatment of Glycogen Storage Disease Type 6. His top areas of expertise are Glycogen Storage Disease Type 6, Tick Paralysis, Ehrlichiosis, and Guillain-Barre Syndrome.

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