McArdle’s Disease (Glycogen Storage Disease Type V) | Patient - adult mcardle disease

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adult mcardle disease - Glycogen storage disease type V - Genetics Home Reference - NIH


Glycogen storage disease type V (GSD-V) is a metabolic disorder, more specifically a glycogen storage disease, caused by a deficiency of myophosphorylase. Its incidence is reported as one in 100,000, roughly the same as glycogen storage disease type I. The disease was first reported in 1951 by Dr. Brian McArdle of Guy's Hospital, London.Specialty: Endocrinology. Key points about McArdle disease. McArdle disease (GSD 5) is a rare, genetic muscle disorder. It is a type of glycogen storage disease. It results from a lack of a key substance that the muscles need to break down glycogen into glucose for energy.

A quick Google search of “adult-onset McArdle’s disease” will yield volumes of medical abstracts on patient studies.I’ve seen plenty of other abstracts that point out that the disease is not often diagnosed until at least the second or third decade of life. McArdle disease is a deficiency of muscle phosphorylase. This is an important substance needed to break down glycogen in your muscle cells. The condition causes fatigue and muscle pain during exercise. The disease can lead to dark urine. Severe, uncontrolled McArdle disease can cause life-threatening kidney problems.

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. People with GSDV typically experience fatigue, muscle pain, and cramps during the first few minutes of exercise (exercise intolerance). Most of the severe forms of GSD are diagnosed in babies and children. Some of the milder types might not be found until the person is an adult. What are the symptoms of glycogen storage disease (GSD)? Symptoms vary based on the type of GSD. Some GSDs affect .

Mar 07, 2018 · A glycogen storage disease (GSD) is the result of an enzyme defect. These enzymes normally catalyze reactions that ultimately convert glycogen compounds to glucose. Enzyme deficiency results in glycogen accumulation in tissues. In many cases, the defect has systemic consequences, but in . McArdle’s disease is a rare muscle disease affecting approximately 1 in 100,000 people. Because their muscles cannot properly metabolize energy, individuals with McArdle’s disease may experience fatigue and failure during strenuous activities like jogging, swimming or even walking.