DEBRANCHER DEFICIENCY Meaning and
Definition
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Debrancher deficiency, also known as glycogen storage disease type III (GSD III), is a rare genetic disorder characterized by the body's inability to properly break down glycogen, a storage form of glucose. This condition is caused by mutations in the AGL gene, which encodes the enzyme glycogen debranching enzyme.
In individuals with debrancher deficiency, the enzyme is either partially or completely deficient, leading to the accumulation of abnormal glycogen molecules in various tissues, including the liver, muscles, and heart. This abnormal glycogen buildup impairs the body's ability to utilize and store glucose effectively, resulting in a variety of symptoms.
Symptoms of debrancher deficiency can vary widely and may include muscle weakness, low blood sugar (hypoglycemia), growth delays, enlarged liver (hepatomegaly), elevated liver enzymes, and cardiomyopathy. Some individuals may also experience abnormalities in blood fats and cholesterol levels.
Treatment options for debrancher deficiency aim to manage and alleviate symptoms. This often involves dietary modifications, such as consuming a high-protein, low-carbohydrate diet, which can help regulate blood sugar levels and minimize the accumulation of abnormal glycogen. Regular monitoring of blood glucose, liver function, and heart health is also important. In severe cases, liver transplantation may be considered as a treatment option.
Overall, debrancher deficiency is a complex metabolic disorder that requires lifelong management and specialized care to optimize the health and well-being of affected individuals.
Common Misspellings for DEBRANCHER DEFICIENCY
- sebrancher deficiency
- xebrancher deficiency
- cebrancher deficiency
- febrancher deficiency
- rebrancher deficiency
- eebrancher deficiency
- dwbrancher deficiency
- dsbrancher deficiency
- ddbrancher deficiency
- drbrancher deficiency
- d4brancher deficiency
- d3brancher deficiency
- devrancher deficiency
- denrancher deficiency
- dehrancher deficiency
- degrancher deficiency
- debeancher deficiency
- debdancher deficiency
- debfancher deficiency
- debtancher deficiency
Etymology of DEBRANCHER DEFICIENCY
The term "Debrancher Deficiency" originates from the field of medical genetics and refers to a metabolic disorder known formally as Glycogen Storage Disease Type III (GSD III).
The etymology of the word can be broken down as follows:
1. Debrancher: The term "de-" means "to remove" or "to undo", while "branch" refers to a division or sub-division. In the context of Glycogen Storage Disease Type III, "debrancher" refers to an enzyme called amylo-1,6-glucosidase (also known as glycogen debranching enzyme) that plays a crucial role in breaking down glycogen, a molecule used to store glucose in the body.
2. Deficiency: The term "deficiency" refers to the state of lacking or having insufficient amounts of something.
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