Glycogen Storage Disease Type VII, also known as Tarui disease, is a rare inherited metabolic disorder that primarily affects skeletal muscles. It is caused by a deficiency of the enzyme phosphofructokinase (PFK), which plays a crucial role in the process of breaking down sugar molecules to produce energy in the body.
Individuals with Glycogen Storage Disease Type VII experience symptoms such as exercise intolerance, muscle cramps, muscle weakness, and fatigue during physical activity. These symptoms result from the impaired ability of the muscles to convert glycogen, a stored form of glucose, into energy. Without sufficient PFK activity, the breakdown of glycogen is disrupted, leading to an energy deficit in the muscles.
The severity and age of onset of this disease can vary among affected individuals. Some may experience mild symptoms and have a relatively normal life expectancy, while others may have a severe form of the condition, leading to muscle wasting, respiratory issues, and potential complications.
Glycogen Storage Disease Type VII is inherited in an autosomal recessive pattern, meaning that both parents must carry a copy of the mutated gene for a child to be affected. Genetic testing and family history analysis are typically employed for diagnosis. The management of this disease revolves around avoiding strenuous physical activities, maintaining a balanced diet, and seeking medical support to alleviate symptoms.
Further research into understanding the molecular mechanisms of Glycogen Storage Disease Type VII may pave the way for potential therapeutic interventions and improve the quality of life for affected individuals.
