Galactosemia is a genetic condition that affects the body’s ability to digest galactose, a sugar present in dairy products and comprising half of lactose. When galactose cannot be properly digested, it accumulates in the blood and tissues along with its byproducts. Timely diagnosis and treatment are crucial as galactosemia can lead to severe complications, including organ damage.
Understanding Classic Galactosemia (Galactosemia Type I)
Classic galactosemia is a recessive genetic disorder that is both common and severe. It is characterized by a deficiency in the galactose-1-phosphate uridyl transferase (GALT) enzyme, which is responsible for breaking down galactolose. To develop galactosemia, an individual must inherit two defective copies of the gene, one from each parent.
Parents who both carry the defective gene have a 25% chance of having a child with galactosemia. This means that there is a significant risk of passing on the disorder to the next generation.
Variant Duarte Galactosemia
Variant Duarte galactosemia is a milder form of classic galactosemia that occurs due to a mutation in the GALT gene. Unlike classic galactosemia, where the body is unable to metabolize any galactose, individuals with the Duarte variety experience a decrease in enzyme activity by about 75%. As a result, people with variant Duarte galactosemia usually do not experience severe symptoms and may or may not need treatment.