Glycogen storage disease type V
Glycogen Storage Disease Type V (also known as McArdle's Disease) is a rare genetic disorder characterized by a deficiency in the enzyme myophosphorylase. This enzyme is necessary for the breakdown of glycogen in muscle cells. The lack of this enzyme leads to symptoms such as muscle weakness and cramps.
Symptoms[edit | edit source]
The symptoms of Glycogen Storage Disease Type V typically begin in childhood or adolescence. They include:
- Muscle weakness
- Muscle cramps
- Exercise intolerance
- Fatigue
- Myoglobinuria (presence of myoglobin in urine)
Causes[edit | edit source]
Glycogen Storage Disease Type V is caused by mutations in the PYGM gene. This gene provides instructions for making the enzyme myophosphorylase, which is necessary for the breakdown of glycogen in muscle cells. When mutations occur in the PYGM gene, the enzyme's activity is reduced or eliminated, preventing the breakdown of glycogen and leading to the symptoms of the disease.
Diagnosis[edit | edit source]
Diagnosis of Glycogen Storage Disease Type V is typically made through a combination of clinical examination, laboratory testing, and genetic testing. The Forearm ischemic exercise test is a common diagnostic tool used to identify the disease.
Treatment[edit | edit source]
There is currently no cure for Glycogen Storage Disease Type V. Treatment is focused on managing symptoms and includes:
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
- GeneReviews: Glycogen Storage Disease Type V
- National Organization for Rare Disorders: Glycogen Storage Disease Type V
Glycogen storage disease type V Resources | ||
---|---|---|
|
|
|
Find a healthcare provider anywhere in the world quickly and easily!
Translate to: East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski
WikiMD is the world's largest, free medical and wellness encyclopedia edited only by professionals. Advertise!
Navigation: Wellness - Encyclopedia - Health topics - Disease Index - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro) available.
Advertise on WikiMD
WikiMD is not a substitute for professional medical advice. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Admin, Prab R. Tumpati, MD