Hers disease
Hers Disease Hers disease, also known as Glycogen Storage Disease Type VI (GSD VI), is a rare genetic disorder that affects the body's ability to break down glycogen into glucose. This condition is caused by a deficiency of the enzyme liver phosphorylase, which is crucial for glycogenolysis in the liver.
Pathophysiology[edit | edit source]
Glycogen is a stored form of glucose that is primarily found in the liver and muscles. In individuals with Hers disease, the deficiency of liver phosphorylase leads to an accumulation of glycogen in the liver, resulting in hepatomegaly (enlarged liver) and hypoglycemia (low blood sugar levels). The inability to properly mobilize glucose from glycogen stores can lead to various metabolic complications.
Genetics[edit | edit source]
Hers disease is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the defective gene, one from each parent, to manifest the disease. The gene responsible for Hers disease is the PYGL gene, which encodes the liver glycogen phosphorylase enzyme.
Symptoms[edit | edit source]
The symptoms of Hers disease can vary but often include:
- Hepatomegaly
- Growth retardation
- Mild hypoglycemia
- Ketosis
Unlike some other glycogen storage diseases, muscle weakness and cardiomyopathy are not typically associated with Hers disease.
Diagnosis[edit | edit source]
Diagnosis of Hers disease is based on clinical evaluation, biochemical tests, and genetic testing. Liver biopsy may show excess glycogen storage, and enzyme assays can confirm the deficiency of liver phosphorylase.
Treatment[edit | edit source]
There is no cure for Hers disease, but treatment focuses on managing symptoms and preventing complications. Dietary management, including frequent meals and a high-protein diet, can help maintain blood glucose levels. In some cases, cornstarch therapy may be used to provide a slow-release form of glucose.
Prognosis[edit | edit source]
The prognosis for individuals with Hers disease is generally good, especially with proper dietary management. Most individuals lead normal lives with minimal complications.
See Also[edit | edit source]
External Links[edit | edit source]
- National Organization for Rare Disorders
- [(https://ghr.nlm.nih.gov Genetics Home Reference]
NIH genetic and rare disease info[edit source]
Hers disease is a rare disease.
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