Glycogen storage disease type V (also known as GSDV or McArdle disease) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in muscle cells. A lack of glycogen breakdown interferes with the function of muscle cells.
Mutations in the PYGM gene cause GSDV. The PYGM gene provides instructions for making an enzyme called myophosphorylase. This enzyme is found only in muscle cells, where it breaks down glycogen into a simpler sugar called glucose-1-phosphate. Additional steps convert glucose-1-phosphate into glucose, a simple sugar that is the main energy source for most cells.
GSDV is a rare disorder; however, its prevalence is unknown. In the Dallas-Fort Worth area of Texas, where the prevalence of GSDV has been studied, the condition is estimated to affect 1 in 100,000 individuals.
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.
Ronald Haller is a Neurologist in Dallas, Texas. Haller has been practicing medicine for over 54 years and is rated as an Elite expert by MediFind in the treatment of Glycogen Storage Disease Type 5. He is also highly rated in 3 other conditions, according to our data. His top areas of expertise are Glycogen Storage Disease Type 5, Myoglobinuria Recurrent, Glycogen Storage Disease Type 3, and Coenzyme Q Cytochrome C Reductase Deficiency. He is licensed to treat patients in Texas.
Alejandro Lucia practices in Madrid, Spain. Lucia is rated as an Elite expert by MediFind in the treatment of Glycogen Storage Disease Type 5. He is also highly rated in 10 other conditions, according to our data. His top areas of expertise are Glycogen Storage Disease Type 5, Myoglobinuria Recurrent, Glycogen Storage Disease Type 7, Rhabdomyolysis, and Bone Marrow Transplant.
Gisela Gadea-Nogales practices in Barcelona, Spain. Gadea-Nogales is rated as an Elite expert by MediFind in the treatment of Glycogen Storage Disease Type 5. She is also highly rated in 8 other conditions, according to our data. Her top areas of expertise are Glycogen Storage Disease Type 5, Myoglobinuria Recurrent, Glycogen Storage Disease Type 7, and Rhabdomyolysis.
Summary: The project will use carbon-13 magnetic resonance spectroscopy to assess whether high glycogen levels in skeletal muscle of patients with Glycogen Storage Diseases is a prelude for muscle damage. Patients with Glycogen Storage Diseases will be examined using carbon-13 MR-spectroscopy to quantify the glycogen levels in lumbar, thigh and calf-muscles. The pattern of glycogen concentration will be co...
Summary: CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, in...
Published Date: June 01, 2014Published By: National Institutes of Health