A marathon for AGSD-UK
Angela Regazzoni is running the London Marathon on 22 April. Read more and sponsor her - click here.
AGSD-UK Annual Conference 2012 Bedfordshire

A date for your diary - Sat 29 and Sun 30 September. A fabulous location for a great weekend. More details.
Pilot drug trial in McArdle's
The MDC has announced a major grant for a pilot drug trial in McArdle Disease. You can read more about the grant here.

 

 

Glycogen Storage Disease Type VII

Also known as Tarui disease or muscle phosphofructokinase deficiency.

The clinical features of Type VII are similar to those of Type V. Patients experience onset of fatigue and muscle pain early in exercise. Exercise intolerance is evident in childhood, as with Type V, but symptoms are more severe. Type VII is caused by a deficiency of the phosphofructokinase enzyme which is needed to facilitate the breakdown of glycogen into energy in muscle. This results in reduced amount of energy available to muscles during exercise.

The body breaks down muscle when trying to attain energy, which causes symptoms such as muscle pain, cramping, fatigue and tenderness. With the breakdown of muscle (rhabdomyolysis) and the release of the red protein myoglobin, 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. GSD VII 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.