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What is Anderson's disease?
One of the important functions of the liver is glycogenosis, which is the conversion of excessive blood glucose into glycogen. This formed glycogen is stored in the liver for future use at times of hunger. The essential mediator for this cycle is the enzyme amylo transglucosidase.
Insufficient amounts or absence of this enzyme results in the formation of amylopeptin, an abnormal formation of glycogen. This amylopeptin may then be deposited in the liver, kidney and other body tissues, and cause serious disturbances in the body. Such damage to the liver could even be fatal.
Anderson's disease is one such rare genetic disorder resulting from malfunction of glycogen metabolism. It can also be termed as glycogen storage disease.
Causes of Anderson's disease
The incidence of Anderson's disease is purely genetic. The defect lies in the formation of amylotransglucosidase, which is the glycogen synthesis branching enzyme. This results in the deposition of abnormal glycogen in the liver and results in lethal effects.
It is transmitted as autosomal recessive traits from one generation to another. If both parents have recessive traits of this enzyme disorder, it is likely that their child will suffer Anderson's disease.
It is not caused by any infections of bacteria or viruses. It is purely a genetic disorder.
Symptoms of Anderson's disease:
These children are normal at birth, but symptoms appear during the first month of life. There is enormous muscle wastage and they fail to thrive. They become excessively lethargic with an enlarged liver and spleen. Almost all body organs are affected due to lack of adequate glucose and glycogen which are the important nutrients for tissue growth.
These affected children don't live for more than three years, mainly because of heart failure and bleeding from the oesophagus (the first part of the intestine that transmits food from mouth to the stomach).
There is excessive muscle wastage and atrophy (malformation in muscle structure), which affects their daily activities and results in failure to thrive.
Treatment of Anderson's disease:
No particular treatment option has been found to be effective against Anderson's disease. In most cases, only supportive therapy is practiced to improve quality of life. Improving and modifying the diet of these patients has been found to be useful in reducing liver size, to maintain blood glucose levels, and to promote adequate nutrition to muscles so that it helps growth and development.
Liver transplantation can be carried out in some children. The donated liver will be able to produce enough enzymes to metabolise blood glucose. However, this procedure may not be affordable by all since it is costly in terms of identifying the donor and also risky in terms of the actual surgical procedure.
Two other therapies that could be useful in treating these children are still in the experimental stage. One is enzyme replacement therapy, which is artificially instilling the enzyme into one's blood stream; the other is gene modification therapy to study the faulty gene traits causing enzyme deficiency and to modify them to meet our goal.
It is necessary that the parents monitor these children continuously for they may develop complications such as carcinoma, and heart and liver failure. Their prognosis depends on the severity of the deformity and usually these children die mostly at the end of second year of life.
