Glycogen Storage Disease Type 0Symptoms, Doctors, Treatments, Advances & More
Learn About Glycogen Storage Disease Type 0
Glycogen storage disease type 0 (also known as GSD 0) is a condition caused by the body's inability to form a complex sugar called glycogen, which is a major source of stored energy in the body. GSD 0 has two types: in muscle GSD 0, glycogen formation in the muscles is impaired, and in liver GSD 0, glycogen formation in the liver is impaired.
Mutations in the GYS1 gene cause muscle GSD 0, and mutations in the GYS2 gene cause liver GSD 0. These genes provide instructions for making different versions of an enzyme called glycogen synthase. Both versions of glycogen synthase have the same function, to form glycogen molecules by linking together molecules of the simple sugar glucose, although they perform this function in different regions of the body.
The prevalence of GSD 0 is unknown; fewer than 10 people with the muscle type and fewer than 30 people with the liver type have been described in the scientific literature. Because some people with muscle GSD 0 die from sudden cardiac arrest early in life before a diagnosis is made and many with liver GSD 0 have mild signs and symptoms, it is thought that GSD 0 may be underdiagnosed.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Charulatha Nagar is a Neurologist practicing medicine in Glenview, Illinois. Dr. Nagar is rated as a Distinguished provider by MediFind in the treatment of Glycogen Storage Disease Type 0. She is also highly rated in 18 other conditions, according to our data. Her clinical expertise encompasses Glycogen Storage Disease Type 13, Glycogen Storage Disease Type 7, Adult Polyglucosan Body Disease, and Andersen Disease. Dr. Nagar is board certified in American Board Of Psychiatry And Neurology - Neurology (Certified). Dr. Nagar is currently accepting new patients.
Robert Gerber is a primary care provider, practicing in Internal Medicine in Grayslake, Illinois. Dr. Gerber is rated as an Experienced provider by MediFind in the treatment of Glycogen Storage Disease Type 0. He is also highly rated in 1 other condition, according to our data. His clinical expertise encompasses Sickle Cell Disease, Phosphoglycerate Mutase Deficiency, Glycogen Storage Disease Type 7, Ureteroscopy, and Bone Marrow Aspiration. Dr. Gerber is board certified in American Board Of Internal Medicine - Internal Medicine (Certified). Dr. Gerber is currently accepting new patients.
Duke Primary Care Croasdaile
Dana Todd is a primary care provider, practicing in Family Medicine in Durham, North Carolina. Dr. Todd is rated as an Experienced provider by MediFind in the treatment of Glycogen Storage Disease Type 0. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses Maturity Onset Diabetes of the Young, Type 2 Diabetes (T2D), Glucocorticoid-Remediable Aldosteronism, and Familial Hypertension. Dr. Todd is board certified in American Board Of Family Medicine, Family Medicine. Dr. Todd is currently accepting new patients.
Published Date: January 01, 2014
Published By: National Institutes of Health