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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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Renal Glycosuria

739bba_e77cdba2374d86971086c5baeda258e3Renal glycosuria is a very rare disease when it’s inherited, and it’s estimated to only affect 0.16-6.3% of the total population.  The condition is benign, which means that people who have it don’t have many problems, and cases of hypoglycemia or hypoyolemia don’t occur often. 

If you’ve got other serious hereditary conditions, such as Lowe syndrome, Fanconi syndrome, or cystinosis you may also experience some problems with renal glycosuria. 

For those that have problems processing glucose, however, it can be much more common.  Your doctor will usually give you a urinalysis to determine what your levels of glucose are.  You may have some urine ketones as well, and your doctor will assess that through the same tests.

About Renal Glycosuria

Like diabetes, renal glycosuria will occur if you’re having problems with sugar glucose levels, especially when they’re being flushed out of your system in your urine, even if you’ve got normal levels of glucose and no pre-existing medical conditions that may be causing glucose or glycogen storage or excretion problems.  The main problem with the condition is that your renal tubules, a filtering agent located in the kidneys, don’t work properly when glucose levels are too high.

Symptoms of Renal Glycosuria

Symptoms mirror those found in other conditions with glucose problems, such as diabetes.  You want to schedule tests with your doctor first before you start jumping to any conclusions.

  •  Constant thirst;
  •  The need for frequent urination;
  •  Dehydration;
  •  High blood sugar.

And like diabetes, you often get into a cycle with the symptoms, a cycle that never seems to end.  If you’re always thirsty, you need to drink more.  But then you urinate more, so it’s difficult.  If you think that the problem is simply a lack of water, try drinking a lot of fluids for a day or two.  If the condition doesn’t clear up, contact your doctor.  Also, if you’re always rushing to the bathroom, give it a day or two.  It could be a temporary condition, or even something like a bladder infection.

Treatment Options for Renal Glycosuria

Like diabetes before, the treatment options for this condition are much the same.  Make sure that you try to lead as active and healthy a lifestyle as possible.  Oftentimes this condition can be averted if you simply eat sensibly and exercise often.  Other treatments include:

  • Medications for an overactive bladder;
  • Lots of water to handle the effects of dehydration and thirst;
  •  Medications and diet changes to tackle rising blood pressure.

Find Out More

If you think you’ve got this condition because your urine smells bad or looks funny in any way, you are probably not correct.  Your urine can smell bad for a variety of reasons, but this just probably isn’t one of them.  Still, if you really want to learn about this condition, there are many places you can read for more information. 

Wise Geek Article
http://www.wisegeek.com/what-are-the-symptoms-of-glycosuria.htm

WebMD Article
http://www.webmd.com/a-to-z-guides/renal-glycosuria

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