What are the symptoms of Hers disease?
| Other names | Liver phosphorylase deficiency |
|---|---|
| Symptoms | Swollen abdomen, poor growth, frequent feeding, low blood sugar, excessive tiredness after activity. |
| Secondary symptoms | Cirrhosis and/or adenomas of the liver. |
| Treatment | Frequent small meals and uncooked cornstarch to normalise blood glucose. |
What causes Hers disease?
Glycogen storage disease type VI (also known as GSDVI or Hers disease) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in liver cells. A lack of glycogen breakdown interferes with the normal function of the liver .
How is Hers disease diagnosed?
The disease is inherited in an autosomal recessive manner. The diagnosis is made based on genetic testing of the PYGL gene. A liver biopsy that tests the function of liver glycogen phosphorylase may be necessary if the results of the genetic testing are inconclusive.
How is Hers disease treated?
Levels of blood glucose should be monitored to make sure that the diet is working correctly. This will minimize the symptoms of the disease. In some patients, no other treatment is necessary. Frequent, small meals supplemented with uncooked cornstarch are recommended to avoid hypoglycemia.
What causes hepatomegaly in glycogen storage disease?
The disorder is characterized by slightly low blood sugar (hypoglycemia). Excess amounts of glycogen (the stored form of energy that comes from carbohydrates) are deposited in the liver, causing enlargement of the liver (hepatomegaly).
What is the prognosis of glycogen storage disease?
People with these types can now live full, normal lives. GSDs that are not treated properly can lead to problems such as liver failure, heart failure, and lung failure. Quality of life and expected length of life are decreased in these cases.
What happens when there is too much glycogen in the liver?
Too much glycogen and fat stored within a cell can be toxic. This buildup damages organs and tissues throughout the body, particularly the liver and kidneys, leading to the signs and symptoms of GSDI.
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.
What organ is malfunctioning in glycogen storage disorder?
Since glycogen is primarily stored in the liver or muscle tissue, glycogen storage diseases usually affect functioning of the liver, the muscles, or both. The glycogen storage diseases that mainly affect the liver are types I, III, IV, and VI.
How do you treat a German shepherd?
Treatment consists of taking regular doses of uncooked cornstarch and/or nutrition supplements. Cornstarch is a complex carbohydrate that is difficult for the body to digest; therefore it maintains normal blood sugar levels for a longer period of time than most carbohydrates in food.
What is Hers disease (Hers disease)?
Investigators have determined that Hers disease occurs as a result of disruptions or changes (mutations) of the liver glycogen phosphorylase gene (PYGL gene located on the long arm (q) of chromosome 14 (14q21-q22). The PYGL gene encodes for the liver phosphorylase enzyme.
What is the cause of Hers’disease?
Hers’ disease. Hers’ disease, also called Glycogenosis Type Vi, hereditary deficiency of the liver enzyme glycogen phosphorylase, which governs the metabolic breakdown of glycogen to the simple sugar glucose, which can then be used to meet the body’s energy needs. The enzyme’s absence causes glycogen to accumulate,…
What is glycogen storage disease type VI (Hers disease)?
Glycogen storage disease type VI was originally called Hers disease when Henry-Gery Hers first described it in 1959. Hers reported three children with an enlarged liver, mild hypoglycemia, and increased glycogen content in the liver.
What is the abbreviation for Hers’disease?
Hers’ disease. Written By: Hers’ disease, also called Glycogenosis Type Vi, hereditary deficiency of the liver enzyme glycogen phosphorylase, which governs the metabolic breakdown of glycogen to the simple sugar glucose, which can then be used to meet the body’s energy needs.