Galactosemia: A Rare Milk Sugar Disorder

Galactosemia: A Rare Milk Sugar Disorder

Galactosemia is a rare congenital disorder which affects the body’s inability to convert galactose into glucose. Galactose is a type of sugar, which is a breakdown product of lactose. Lactose is found in milk and milk products, including breast milk. Given that the galactose can not be broken down, it builds up in the body and acts as a poison that can cause serious damage to it‘s carrier(“galactosemia“). “As milk is important to a baby’s diet, early diagnosis is essential to avoid lifelong problems from this potentially fatal disorder “(Chung). This research paper provides information about the genetic part of Galactosemia, the cause, symptoms, diagnosis, treatment.

The first trace of information that was brought to light about galactosemia was in 1908 by Von Ruess. He composed an article of his findings in an infant with many of the symptoms we now relate to galactosemia. This work has widely been accepted by scientists as the first reported case of galactosemia. However, at this time the diagnosis of galactosemia was not yet possible. It would be nine years before a similar diagnosis of galactosuria was largely accepted by scientists as a hereditary disorder.

In 1917, galactosuria was treated by eliminating dairy products from an individual’s diet. (“galactosemia“) The discovery of galactosemia was published by Manson and Turner in immense detail. Although this disease was recognized earlier, it was not until 1956 that scientists discovered the mutated gene that causes galactosemia. It is know that the mutated gene is found encoded on chromosome 9. In 1963, a major break- through was unearthed. Galactosemia was the second disorder found to be detectable through newborn screening. Finally, in 1970 galactosemia was acknowledged as a metabolic disease. Today scientists largely accept the notion that galactosemia is a rare metabolic disorder (disease).

This disorder comes in two different variations. Though there is more than one type, it is still rare, having only 1 in 100,000 births being affected by the disorder (Feinbloom). Classic Galactosemia is the first and more common form of the disorder. This is the form when the affected has a complete loss of the enzyme. Both parents must contribute a galactosemic gene for a child to receive the disorder. Since the accumulation of galactose behaves as a toxin in the body, serious complications such as an enlarged liver, kidney failure, cataracts, and brain damage may occur.