GSD7 – TARUI DISEASE

Also known as muscle phosphofructokinase deficiency. People with Tarui’s have nearly identical symptoms as McArdle’s people but do not experience the same “second-wind”.
Estimated cases diagnosed worldwide: <200.

QUICK OVERVIEW

SYMPTOMS

Muscle pain and fatigue on everyday activity and exercise. Fixed contracture with rhabdomyolysis. Raised baseline CK.

SECONDARY

Myoglobinuria, nausea and vomiting following strenuous exercise.

ONSET

Infantile, childhood, late-onset.

INVOLVED

Skeletal muscle.

TREATMENT

Avoid anaerobic exercise. Maintain a healthy diet, low in carbohydrates.

OUTLOOK

Good with avoidance of anaerobic and isometric activity.

Tarui disease results from a deficiency in the PFKM gene, impairing synthesis of muscle phosphofructokinase. 

Jeremy Michelson gives an account of his diagnostic odyssey, and makes a case for newborn screening though genetic testing for many more rare diseases, including GSD7.

CLINICAL FEATURES

The clinical features of GSD7 are similar to those of GSD5 (McArdle disease) with onset of more severe fatigue and muscle pain early in exercise. People with Tarui disease cannot utilise glucose in the muscles. Sometimes there is nausea and vomiting after intense exercise. Symptoms are evident in childhood. Patients may display a hemolytic anemia. There is said to be no McArdle-like “second-wind”, although some patients report a second-wind starting rather later.

ENERGY SHORTAGE

GSD7 is caused by a deficiency of the phosphofructokinase enzyme which is needed to facilitate the breakdown of glucose into energy in muscle during exercise. The body breaks down muscle (rhabdomyolysis) when trying to attain energy, which causes symptoms such as muscle pain, cramping, fatigue and tenderness. The red protein myoglobin is released and red-brown urine may be seen.

GENETIC CONDITION

The enzyme deficiency is due to abnormalities in the muscle phosphofructokinase gene and is inherited as an autosomal recessive genetic disorder.

DIAGNOSIS

Diagnosis is by genetic testing or muscle biopsy, which will show a deficiency of muscle phosphofructokinase and a modest accumulation of glycogen. Treatment primarily consists of avoiding strenuous exercise. Some patients have been helped by a high protein diet, others by a low carbohydrate high fat diet. It has been reported that only 100 to 200 cases have been identified worldwide.

RECENT RESEARCH

For details of research papers you can search PubMed for “Glycogen Storage Disease Type VII”. Here is a link to a recent case report of the beneficial effect of a ketogenic diet in GSD7.

CLINICAL PRACTICE GUIDELINES

Clinical Practice Guidelines for both GSD5 and GSD7 have been prepared by an international team lead by IamGSD and published in Neuromuscular Disorders, the journal of the World Muscle Society. They are available free under Open Access. Click here for more details.

PERSONAL STORIES

Checkout the personal stories we have, there is at least one about someone with GSD7 Tarui.