Glycogen Storage Disease

739bba_35dee1e117d9fd996483074a934bde54Do you have too much sugar in your blood?  If you do, you might be in for some serious problems now and later in life.  Too much glycogen in your blood can make it harder for the liver, kidneys, and small intestine to do their jobs. 

Excessive amounts of glycogen over time can lead to some serious health risks, and one common condition that causes this to occur is called glycogen storage disease.

What is Glycogen Storage Disease?

Glycogen storage disease type 1, or GSDI or von Gierke disease, is a genetic disorder.  That means that if your parents or grandparents had it, you may be at risk.  It starts early, when you’re still an infant, and it can lead to problems with growth later in life.  If left unchecked and untreated, it could lead to problems with glycogen being stored as fat, which can prove fatal.

Symptoms of GSDI

There are ten different types of different glycogen storage diseases, and they’re broken down into subcategories in the medical world based on what enzyme is responsible for the condition.  Different parts of your body can be affected differently depending on what enzyme is at work.

Below are symptoms common to all of them:

  • Having low blood sugar levels;
  • An overly large liver;
  • You’re growth is delayed or slow;
  • You experience muscle cramps;
  • Your stature is smaller than that of your peers.

Babies begin to exhibit symptoms of this condition as early as 3-4 months old.  It happens because babies begin sleeping more and eating less, and this can lead to low blood sugar levels and even seizures. 

Waste and lactic acid also buildup, and over time this can cause children to develop at a slowed pace, often delaying puberty, and causing arms, legs, and the overall stature of individuals to be much smaller than their peers.

The condition will worsen as you get older, and could lead to the early onset of osteoporosis, high blood pressure, kidney disease, tumors in the liver, and in women, ovaries that develop abnormally.

Who Gets GSDI?

The good news is that GSDI is not a common condition, affecting only 1 out of very 100,000 people.  Still, with ten different categories, having this is going to be a challenge.

The two primary genes responsible for the condition are 6PC and SLC37A4.  When these two genes have mutations, it makes it more difficult for the body to breakdown glucose. 

This is a serious problem, for if you’ve got too much glucose it will turn into glycogen which is then stored as fat.  If you’ve got too much of both stored in your cells, you could be in for a toxic mix.

Where Can I Find More Information About GSDI?

There are many useful websites devoted to the different categories of GSDI and how people can deal with it in their lives.

Children’s Hospital of Pittsburgh Article
http://www.chp.edu/CHP/glycogen+storage+diseases

Patient.Co Article on Genetic Disorders
http://www.patient.co.uk/health/Glycogen-Storage-Disorders.htm

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