Glycogen branching enzyme deficiency is a kind of glycogen storage disease. This is an indication that it is an autosomal recessive metabolic disorder. In other words, glycogen branching enzyme deficiency is an inborn error of metabolism that is evidenced by a deficiency in glycogen debranching enzymes. When this happens, there is an accumulation of abnormal glycogen that is referred to as amylopectin with long outer branches. This may result in cirrhosis and occasionally liver failure.
Glycogen branching enzyme deficiency is a genetically linked metabolic disorder. Like the other glycogen storage diseases, it has to do with the enzymes regulating glycogen metabolism. These enzymes affect the processing of glycogen synthesis or breakdown inside your ahaha muscles, liver and other cell types. Each step in the process of glycogen synthesis uses a different enzyme. This process is stopped if any one of these enzymes does not function like it should and does not finish its step. The particular enzyme that is defective is what determines the type of glycogen storage disease that you have.
Fortunately, glycogen branching enzyme deficiency is a very rare disease. It affects about 1 to 9 people for every million people in the United States.
Glycogen branching enzyme deficiency is caused by the absence of an enzyme that is required to make the glycogen that you need. This disease results from a deficiency in the expression of branching enzyme (alpha-1,4-glucan-6-alpha-glucosyltransferase). As mentioned above, when this takes place there is an accumulation of abnormal glycogen called amylopectin with long outer branches.
There are several signs and symptoms that you may experience that may be an indication of glycogen branching enzyme deficiency. Some of the possible signs and symptoms are:
§ Swelling (edema)
§ Enlarged liver
§ Muscular atrophy
§ Gastrointestinal problems
§ Liver cirrhosis
§ Lack of infant muscle tone
§ An enlarged spleen
§ Failure of an infant to thrive
§ Abnormal fluid buildup in your abdomen
§ Poor infant weight gain
§ Reduced tendon reflexes
§ Neurological abnormalities.
You or a loved one may be suffering with glycogen branching enzyme deficiency. This disease and/or complications that have developed from it or other ailments that you have along with this disease may have caused you or your loved one’s disability and be what is keeping you from being able to work.
Because of this, you may need help. You may need financial assistance.
You or your loved one may be considering applying for the financial help that you need from the Social Security Administration by applying for Social Security disability benefits or disability benefits because of the disability that has resulted from glycogen branching enzyme deficiency and/or complications that have been brought about by it or other ailments that you have besides this disease. You may have already taken this step, and your application was denied by the Social Security Administration.
If you or your loved one has decided to reapply or appeal the denial, you really should keep in mind an important fact that you may not know about. It is an established fact that people who have a disability lawyer in their corner like the one you will find at disabilitycasereview.com are approved more often than people who are not represented by a disability attorney.
Please do not delay or put this off until tomorrow. It is far too important to you or your loved one. Contact the disability lawyer at disabilitycasereview.com, today.