15th April 2014

International Pompe Day

Press Release

 

Pompe Update

Healthcare at Home

Deliveries Statement

 

GSD Giant 2014 

Annual cyclo-sportive.

7th September 2014

Goodwood, West Sussex

104, 76, 44 mile options

 

GSD Giant website
  

 

Glycogen Storage Disease Type VII

Also known as muscle phosphofructokinase deficiency or Tarui disease.

The clinical features of Type VII are similar to those of Type V with onset of more severe fatigue and muscle pain early in exercise. Symptoms are evident in childhood. Type VII 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.

Diagnosis is by muscle biopsy, which will show a deficiency of muscle phosphofructokinase and a modest accumulation of glycogen. Patients may also display a hemolytic anemia. Treatment primarily consists of avoiding strenuous exercise. Some patients have been helped by a high protein diet. The enzyme deficiency is due to abnormalities in the muscle phosphofructokinase gene and is inherited as an autosomal recessive genetic disorder.

Type VII summary
Symptoms Muscle pain and fatigue on exercise.
Muscle cramps and tenderness.
Secondary symptoms Myoglobinuria
Treatment Avoid anaerobic exercise. Maintain healthy diet,
increased protein may help.
Outlook Good with avoidance of anaerobic
activity.

 

The Coordinator for Type VII is Marilyn Silver, who has the condition herself. (This is a voluntary unpaid role.) You can contact her via the Contact us page.