Glycogen storage disease type 7

Disease Overview

Glycogen storage disease type 7 (GSD7) is an inherited condition in which the body is unable to break down glycogen (a complex sugar) in the muscle cells. Because glycogen is an important source of energy, this can interfere with the normal functioning of muscle cells. The severity of the condition and the associated signs and symptoms vary, but may include muscle weakness and stiffness; painful muscle cramps; nausea and vomiting; and/or myoglobinuria (the presence of myoglobin in the urine) following moderate to strenuous exercise. Symptoms typically resolve with rest. GSD7 is most commonly diagnosed during childhood; however, some affected people may rarely develop symptoms during infancy or later in adulthood. Those who develop the condition during infancy may experience additional symptoms such as hypotonia (poor muscle tone), cardiomyopathy and breathing difficulties that often lead to a shortened lifespan (less than 1 year).[8917][8918][8919] This condition is caused by changes (mutations) in the PFKM gene and is inherited in an autosomal recessive manner.[8917] There is no specific treatment for GSD7; however, affected people are generally advised to avoid vigorous exercise and high-carbohydrate meals.[8918][8919]

Synonyms

• Muscle phosphofructokinase deficiency
• Tarui disease
• GSD7
• PFKM deficiency