This website is dedicated to all the moms in Georgia and other states that have children who suffer from the different forms of Galactosemia.
Researchers have identified several types of galactosemia. These conditions are each caused by mutations in a particular gene, and affect different enzymes involved in breaking down galactose. Classic Galactosemia, also known as type I, is the most common and most severe form of the condition. Galactosemia type II (also called galactokinase deficiency) and type III (also called galactose epimerase deficiency) cause different patterns of signs and symptoms.
Genotypes involving the Duarte variant gene include:
D/N = carrier of Duarte galactosemia (about 75% enzyme activity)
D/D = homozygous carrier of Duarte galactosemia (about 50% enzyme activity)
D/G = Duarte galactosemia (about 25 - 50% enzyme activity)
The current data shows 1 in 40, 000 babies in Georgia have galactosemia (Ga Dept of Community Health 2009).
This metabolic disorder has to be controlled with a strict diet that is milk, lactose,and galactose free.
My son was diagnosed with duarte galactosemia at 19 days of age. We are thankful for the PKU done at the hospital but wished the results would have come sooner. Because of the milk he was given from birth til we received the results, he received stomach and small instestine ulcers. He also suffered from a severe form of reflux. A combination of all these issues has caused various other issues for his life. I have found that Georgia lacks a support system for moms like me. It is hard to find physicians familiar with the condition also. I have setup this website to share information on dietary resources, feeding clinics, therapy centers, and related links to this metabolic disorder.
*If you have questions regarding this genetic condition, please visit the links section to find our Facebook page. You can submit diet questions, post pictures, and other great opportunities there.