Glycogen storage disease type III

By: Paul and Langston

Definition

Glycogen storage disease type III is when you have a deficiency of the enzyme amylo-1,6 glucosidase, or debrancher enzyme. This is a disease that causes tissue to be made in shorter chains. Therefore causing the tissue to be come weaker. It affects places such as the heart, liver, and muscles. These are places where tissue can attach overtime and make that muscle stronger. This disease basically keeps muscles weak. This disease also gives the affected carrier low blood sugar because glycogen is a complicated form of sugar that the body is unable to use or release.


Chemically what is happening

This disease causes excess amounts of an abnormal glycogen to be deposited in the liver and muscles. There is a mutation in the AGL gene chromosome band 1p21.2. This is a recessive gene that affects both sexes. Glycogen is a complex sugar molecule the body uses to store carbohydrate energy. After you eat a meal there is an excess of sugar in your blood. To counteract this your body stores that extra sugar in the form of glycogen. A normally functioning body would be able to go in and turn that glycogen back into glucose when needed. This disease allows the body to store that glucose as glycogen but prevents it from being retrieved when needed. This in turn causes an unhealthy build up of glycogen that can not be removed. This affects the muscles because without the the debrancher to break down the glycogen it builds up causing the tissue to not only be weak but become enlarged and not function properly.

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Causes

GDS III is an inherited disease from 2 recessive genes A person has around a 30,000 genes in every cell of their body. Two sets of every gene are inherited, one set from the mother and one set from the father.




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Why Glycogen Storage Disease Type III Is A Metabolic Disease-

It is a metabolic disease because in one the the genes the chemical affects this gene and makes it recessive. When somebody has both of the recessive genes, The Disease takes affect.




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Video

http://www.icyou.com/video-source/doctors-and-experts/histopathology-heart-liver-glycogen-storage-disease+

Symptoms

Symptoms include increased aging speeds but seem to dissipate after puberty. Some cases were known to age even after puberty. Muscle weakness and muscle failure can occur as well. There are no fatal cases of this disease. Other symptoms include irritability, tantrums respiratory distress lethargy, seizures, poor concentration, hypothermia, headache, and sweating.

Statistics


Glycogen storage disease type III is a rare. There are only two cases that have been reported in America. The last case was almost 25-30 years ago. The rarity of this disease causes doctors to believe that this was a disease that ran in that family. Number wise the disease is estimated in 1 in 43,000. This number in all actuality may be much larger. Internationally there have only been ten cases total. In newborns only 1 in 83,000 are affected by any of the seven forms of glc.

Types

Glycogen storage disease type Ia
Glycogen storage disease type Ib
Glycogen storage disease type II
Glycogen storage disease type III
Glycogen storage disease type IV
Glycogen storage disease type V
Glycogen storage disease type VI
Glycogen storage disease type VII


Work Cited

http://en.wikipedia.org/wiki/Glycogen
http://www.agsdus.org/html/typeiiicori.htm
http://en.wikipedia.org/wiki/Glycogen_storage_disease_type_III
http://emedicine.medscape.com/article/942618-overview
http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGL