My Discussion with the Galactosemia Foundation

I recently emailed a representative of the Galactosemia Foundation in order to acquire more information on galactosemia. I recieved a response from Scott Shepard the next day with very detailed information on the specific genes involved in galactosemia. As I mentioned in the post titled Genetics, there are three types of galactosemia. Type 1, the most common, can include what is known as "classic" galactosemia, as well as several other "variant" forms of galactosemia. Shepard also informed me that the most common allele mutation for this disorder is called Q188R. Galactosemics with this mutation have a homozygous Q188R/Q188R gene. My discussion with Shepard was very informative, and I highly recommend that you email the Galactosemia Foundation with any questions of your own here.

Galactosemia vs. Lactose Intolerance

There are many similarities between these two disorders. However, it is important that we realize the difference between galactosemia and lactose intolerance. While both of them involve a negative reaction to milk, galactosemia is much more severe. Galactosemia can cause a deadly buildup of galactose in the body when milk is consumed, whereas lactose intolerance can only cause vomiting or indigestion. And, although both conditions are hereditary, galactosemia is a much more rare defect, and lactose intolerance is much more common. So, while both disorders are similar, galactosemia is much more rare and dangerous to those afflicted.

Top 5 Organizations

These five organizations provide great information on galactosemia:

Galactosemia Foundation
1-866-900-7421

Galactosemia Midwest
acredwilburn@att.net

Galactosaemia Support Group
012-137-85143

American Liver Foundation
800-465-4837

Canadian Families with Galactosemia
905-628-8251

Genetics

Galactosemia is a recessive trait, which means it is only expressed if a person carries two galactosemia alleles. It is extremely rare: about 1 in 30,000-60,000 people inherit galactosemia, and there are only 9,066 people with the disorder in the United States. There are three main types of galactosemia: type 1 (deficient GALT enzyme), type 2 (deficient GALK enzyme), and type 3 (deficient GALE enzyme). These three enzymes all break down the galactose found in milk products. The most common type is type 1, however they are all very rare.

What is Galactosemia?

Galactosemia is a genetic disorder that affects a person's ability to properly metabolize galactose. Galactose is found in all milk products and some other sources, such as tomato sauces and beets. It was discovered in 1908 by Von Reuss, who observed a breast-fed infant who failed to develop correctly and had an enlarged liver and spleen. This is common in patients with galactosemia. Symptoms include yellowing of the skin or whites of the eyes, vomiting, poor weight gain, feeding difficulties, irritability, convulsions, cataracts, intellectual disabilities, sepsis (full-body inflammation), cirrhosis (liver scarring), liver failure, kidney problems, swelling of the extremities of the abdomen, ovarian failure, and decreased bone mineral density.