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Saturday, September 19, 2009

Glycogen Storage Diseases (GSD)

I maintain this blog for every type of person who wants to reduce or avoid dairy. Some reasons are obvious: lactose intolerance or milk protein allergy. Some are secondary to another goal: keeping kosher or vegan. A few are less obvious: diseases like galactosemia or glycogen storage disease.

Glycogen storage disease (GSD) is actually a host of 11 related ailments, each caused by the failure of an enzyme to break down sugars in the body. Some have older names, like von Gierke's disease, now known as GSD type 1, the commonest of the types.

Sufferers of these very rare conditions can't break down the fructose found in most fruits or galactose, which is the sugar that the lactose in milk breaks down to. They have to avoid those sugars their entire lives. Even so, liver damage is always a threat.

I found out about this rare problem from an article by Martin DeAngelis of PressofAtlanticCity.com about the death of Lindsey Goldhagen.

Lindsey was 9 months old when Ina and Jerry Goldhagen found out she was sick - gravely so, and in imminent danger of suffering brain damage, they were told. The parents thought they were going to their pediatrician for a routine checkup, but they next thing they knew, they were rushing their first baby to a hospital.

Even there, though, nobody could figure out why her blood sugar was so low. The doctors just knew Lindsey wasn't getting enough nutrition and wasn't responding to any treatments for that. The only thing they could suggest was to rush Lindsey across the river to Children's Hospital of Philadelphia.

But doctors there not only recognized a condition called glycogen storage disease, it turned out that CHOP specializes in GSD. It's a genetic disease that affects just one out of about 250,000 babies, generally with Jewish parents. It makes it impossible for the liver to break down sugars into nourishment for the body; instead, GSD stores sugar in the liver and "would make her liver get bigger and bigger," her mother explains.

GSD is hard to live with, but the specialists said the family could manage it by taking care of Lindsey's diet - constantly, and scrupulously.

"No fructose," or fruit sugar, her mom says, ticking off a few of the food restrictions. "So she couldn't have a piece of fruit. Never. No lactose, so she couldn't have cheese. No candy, no cake," and the banned-foods went on and on.

A liver transplant gave her two extra years of life and the healthier liver allowed her to eat a more varied diet. Valedictorian of her high school, she planned on being a nurse to help others. Her body finally rejected the new liver and she died just before beginning what could have been her junior year at the University of Pennsylvania.

My condolences to Mr. and Mrs. Goldhagen and all of Lindsey's many college friends.

For more information, check the Association for Glycogen Storage Disease or the Children's Fund for GSD Research sites.

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3 comments:

Cables said...

There are different forms of Glycogen Storage Disease (GSD), but basically he suffers from a genetic disorder causing an enzyme deficiency. In his case, he has abnormal tissue concentrations of glycogen (too much in his muscle).

Depending on the type of GSD, it is possible to have high glycogen concentrations in the muscle only, but everywhere else is fine.

Escort Agencies London said...

Specilaist so called Doctors are not only recognized condition called glycogen CHOP revealed that specializes in GSD. It is a genetic disease that affects about one child, usually in a Jewish family.

Debts said...

The diagnosis of a rare genetic disorder can be an isolating experience for patients and their families, and in some cases also by their doctors. So these are designed to help reduce feelings of isolation, providing not only information but also a point of contact.