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.
Neuromuscular Research Center
Kumaraswamy Sivakumar is a Neurologist practicing medicine in Phoenix, Arizona. Dr. Sivakumar is rated as a Distinguished provider by MediFind in the treatment of Glycogen Storage Disease Type 0. He is also highly rated in 73 other conditions, according to our data. His clinical expertise encompasses Inclusion Body Myositis, Myasthenia Gravis, Chronic Inflammatory Demyelinating Polyneuropathy, and Pompe Disease. Dr. Sivakumar is board certified in Psychiatry & Neurology (Neurology), Psychiatry & Neurology (Sub: Clinical Neurophysiolog, and Psychiatry & Neurology (Sub: Neuromuscular Medicine). Dr. Sivakumar is currently accepting new patients.
Charulatha Nagar is a Neurologist practicing medicine in Glenview, Illinois. She has been practicing medicine for over 36 years. 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 Adult Polyglucosan Body Disease, Andersen Disease, Glycogen Storage Disease Type 13, and Phosphoglycerate Mutase Deficiency. Dr. Nagar is board certified in American Board Of Psychiatry And Neurology - Neurology (Certified).
Cleveland Clinic Children's Outpatient Center
Kadakkal Radhakrishnan is a Pediatrics provider practicing medicine in Cleveland, Ohio. Dr. Radhakrishnan is rated as an Advanced provider by MediFind in the treatment of Glycogen Storage Disease Type 0. He is also highly rated in 8 other conditions, according to our data. His clinical expertise encompasses Von Gierke Disease, Glycogen Storage Disease Type 7, Phosphoglycerate Mutase Deficiency, Glycogen Storage Disease Type 13, and Liver Transplant. Dr. Radhakrishnan is board certified in American Board Of Pediatrics, 2010.
Published Date: January 01, 2014
Published By: National Institutes of Health