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Thursday, June 25, 2009

Galactosemia, the Most Serious Lactose Problem

Lactose is what's called a disaccharide, a complex sugar made out of two simpler sugars, in this case glucose and galactose. Lactose intolerance occurs when the body doesn't make sufficient lactase, the enzyme that splits lactose into the simpler, and therefore digestible, sugars.

Glucose is the primary energy source for the body. All carbohydrates digest down to glucose and we must maintain a supply of it to live even for a very short time. There's really no such thing as a glucose problem.

What about galactose? Well, galactose is a carbohydrate and the body will convert galactose to glucose shortly after it is absorbed into the intestines. If this doesn't happen, a variety of awful symptoms appear. These appear much more slowly than a glucose problem, however.

Occasionally, therefore, a baby is born with the inability to convert galactose and lives long enough for the doctors to figure out the problem. This is called galactosemia. It's pretty rare, which is why I talk about so seldom. I last did so in 2007, with the posts Galactosemia: the Other Lactose Problem and Sarah's Cure about a nonprofit organization to fund research for a cure.

I was reminded of my need to periodically mention galactosemia by a very good article on the subject by Dr Vandana Rao on DNA India.com.

Dr Rao said that:

Some of the common symptoms are jaundice, vomiting, poor feeding (baby refusing to drink milk-containing formula), poor weight gain, lethargy, irritability and convulsions.

Infants with Galactosemia will develop most of the above symptoms within days of drinking milk.

Milk includes both breastmilk and a milk-containing formula, which means that virtually every baby in the world with galactosemia will start showing symptoms within days of birth. Doctors today will recognize the problem and move the infant onto a nondairy formula immediately. Lactose must be avoided for life.

Now for a complaint. I keep mentioning that the people who write articles for newspapers or magazines, or just about any publication that they don't control, normally never also write the headline for that article. That is the job of an editor.

Now if you were an editor and you read that list of symptoms above, what title would you put onto this article? Could any of you be so thoroughly dense as to title it "Lethargic? It could be Galactosemia"?

Lethargic? Who among us not named Richard Simmons isn't lethargic at times? Wouldn't that word draw you to the article? Wouldn't you think that you yourself might be suffering from galactosemia?

You aren't. I guarantee that no adult suddenly stumbles upon the knowledge of being galactosemic. You know it from before you can talk or not at all, because you simply don't live long enough to talk if you don't find it out.

That is probably the most boneheaded headline I have ever come across, and you regular readers out there know that I complain about headlines with bile-spewing frequency.

My apologies to Dr Rao for having her excellent article spoiled by some ignorant clod. You deserved better.

For more information on galactosemia, go to Parents of Galactosemic Children Inc.

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