HARRISON FORD IN GSD FILM
Extraordinary Measures starring Harrison Ford, based on the book "The Cure" it tells the story of John Crowley and his part in funding the development of an enzyme-replacement therapy for people with Pompe Disease. Two of John's children suffer from Pompe (GSD Type II). UK release 26th February.

 

MCARDLE HANDBOOK PROJECT
Thanks to the Vodafone Foundation Kathryn Wright is preparing a Handbook for people with McArdle's. More details here.

 


 

HARRISON FORD IN GSD FILM
Extraordinary Measures starring Harrison Ford, based on the book "The Cure" it tells the story of John Crowley and his part in funding the development of an enzyme-replacement therapy for people with Pompe Disease. Two of John's children suffer from Pompe (GSD Type II). UK release 26th February.

 

MCARDLE HANDBOOK PROJECT
Thanks to the Vodafone Foundation Kathryn Wright is preparing a Handbook for people with McArdle's. More details 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.

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.