Hers Disease Life Expectancy | Glycogen Storage Disease Type 6

Hers Disease Life Expectancy | Glycogen Storage Disease Type 6

Hers Disease have first described by pathologist Doctor Henri Géry Hers in year 1959. There is a defect in hepatic glycogen phosphorylase enzyme that caused all of the disorders. There is a glycogen storage disorder in this disease. For this reason, this disease has also named as Glycogen storage disease type 6 too. The prevalence of this disease is 1 in 100,000 people.

Hers Disease genetics:

This disease have an autosomal recessive inheritance. Because of autosomal recessive inheritance, in an affected family; the children have %25 chance for being affected, %50 chance for being an asymptomatic carrier, and %25 chance for being a health person. With it, because of autosomal recessive inheritance this disease is more common in consanguineous marriage. There is a defect in PYGL gene on chromosome 14.

Hers Disease symptoms:

  • Hepatomegaly will seen in all these patients.
  • The affected children will have growth retardation also.
  • Always ketotic hypoglycemia will seen after an overnight fasting. With it, mild hypoglycemia after prolonged fasting will seen also.
  • Postprandial lactic acidosis have described also.
  • Hepatic adenoma formation risk have Increased.

Clinical and biochemical abnormalities may resolve with age; most adults are asymptomatic also.

Hers Disease diagnosis:

Hepatomegaly is common in these patients. Growth retardation is almost always reported. Ketotic hypoglycemia after an overnight fasting or mild hypoglycemia after prolonged fasting may seen also.

Triglycerides, cholesterol, and liver transaminases like AST and ALT level may mildly elevated.

In liver biopsy elevated glycogen content and decreased hepatic phosphorylase enzyme activity have reported also.

Hers Disease treatment:

Usually may not require any treatment. But, in rare severe forms treatment may necessary also. The goal of the treatment is to normalize blood glucose concentration and avoid ketosis. To prevent from hypoglycemia, frequent small meals and uncooked cornstarch one to three times a day is beneficial. Growth hormone may helpful for growth retardation also. When hepatomegaly presents and hepatic functions are affected, avoid from contact sports.

Hers Disease life expectancy:

Mild Hers Disease forms does not reduce the life expectancy. Severe forms also does not affect life span too with support treatment.

Hers Disease does not affect mental situation and does never cause to mental retardation.

To read about Von Gierke disease click this link

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