Can adults develop glycogen storage disease?

Can adults develop glycogen storage disease?

However, other forms of the disease have also been described that may be evident at birth, during late childhood, or in adulthood. Males and females appear to be affected in relatively equal numbers. The frequency of all glycogen storage diseases is estimated to be one in approximately 20,000 to 25,000 live births.

What causes Tarui disease?

Tarui disease (also known as phosphofructokinase deficiency, or glycogen storage disease type VII) was first described in 1965 by the Japanese physician Seiichiro Tarui and his co-workers. It is caused by deficient activity of the enzyme phosphofructokinase (muscle PFK or PFKM) in muscle tissue.

What do you expect would happen to a person if they were deficient in all 3 forms of PFK?

Clinical features can include myopathy, psychomotor impairment, cataracts and joint contractures. Death usually occurs during childhood. There is a 2007 case report of a boy with PFK deficiency who presented, aged 3 days, with neonatal seizures and early infantile non-progressive muscle weakness.

How is Tarui disease diagnosed?

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.

What are the symptoms of glycogen storage disease in adults?

General symptoms of GSD may include:

• Not growing fast enough.
• Not feeling comfortable in hot weather (heat intolerance)
• Bruising too easily.
• Low blood sugar (hypoglycemia)
• An enlarged liver.
• A swollen belly.
• Weak muscles (low muscle tone)
• Muscle pain and cramping during exercise.

How is Tarui disease treated?

GSD7 is passed down in families in an autosomal recessive pattern of inheritance. There is no specific cure or treatment for GSD7, but people with GSD7 are recommended to avoid heavy exercise and avoid eating meals with high amounts of carbohydrates. GSD7 was first described by Tarui et al.

What are the symptoms of McArdle’s disease?

What are the symptoms of McArdle disease?

• Better able to do aerobic exercise after 8 to 10 minutes (second-wind phenomenon)
• Brownish red urine, especially after periods of activity.
• Easily tiring during activity, with stiffness or weakness soon after starting exercise.
• Muscle cramping.
• Muscle pain.

What organ is the major site of gluconeogenesis?

The enzymes for gluconeogenesis are located in the cytosol, except for pyruvate carboxylase (in the mitochondria) (more…) The major site of gluconeogenesis is the liver, with a small amount also taking place in the kidney. Little gluconeogenesis takes place in the brain, skeletal muscle, or heart muscle.

What does Phosphofructokinase deficiency do?

In this condition, a deficiency of the M subunit (PFKM) of the phosphofructokinase enzyme impairs the ability of cells such as erythrocytes and rhabdomyocytes (skeletal muscle cells) to use carbohydrates (such as glucose) for energy. Unlike most other glycogen storage diseases, it directly affects glycolysis.

What are the symptoms of McArdle’s Disease?

What are the symptoms of glycogen storage disease?