Disease transmission and treatment/prevention

There is no way to prevent development of galactosemia since it’s an inherited genetic disorder. Those unaffected by this disorder inherit two “normal” genes for the production of the GALT enzyme — the one needed to convert galactose into a usable form for the body — and have normal enzyme activity (“Galactosemia”). A carrier of galactosemia inherits one normal GALT gene from one parent, but the gene from the other parent contains an error. A person with classic galactosemia must inherit the error-prone gene from each parent, making it a recessive gene. They have virtually zero GALT enzyme activity (“Understanding Galactosemia”).

(Newborn Screening Info)

Galactosemia is most common in people from Ireland — it affects one in every 24,000 Irish babies, compared to one in every 30,000 to 60,000 babies in the United States (“Genetic Fact Sheets”).

Since nearly all states require classic galactosemia testing for newborns, it is relatively easy to identify the disease early on. Treatment includes having galactose, a primary breakdown of lactose, entirely removed from the body. This means babies cannot have milk or foods containing milk products. The banned foods list eventually grows to include legumes, organ meats, and processed meats, all of which have high levels of galactose. Those afflicted must also check to see if pills use lactose as a filler; physicians recommend galactosemic babies consume soybased and casein hydrolysate-based formulas (“Galactosemia,” Medical Dictionary).

These children are also typically given calcium supplements since their calcium is typically low from not eating or drinking milk products. They also need regular blood and urine tests, which are used to detect toxic substances (“Genetic Fact Sheets”).

(Texas Department of State Health Services)

Although treatment can help offset some of galactosemia’s worst symptoms, no one can yet be completely cured of the disease. This is partly due to the disease’s relatively infancy since discovery, but also because the body produces galactose, meaning symptoms cannot be entirely eliminated (“Genetic Fact Sheets”).

If the disease is identified within the first 10 days of life, babies have an increased chance at normal growth, development and intelligence. However, if it is identified after this time frame, children experience the most adverse side effects of the disease (“Genetic Fact Sheets”).

It seems physicians and researchers have developed the best possible treatment given the limited understanding of the disease. However, these treatment measures clearly are not enough. Because this disease is so rare, the only suggestion I have for improved treatment measures is that research needs to continue in this field. Additionally, more effort should be placed on developing galactose- and lactose-free foods so that people afflicted with this disease can have an expanded diet, thereby increasing their chances for a fuller and healthier life.

Here is a quick summary of what is so far understood about galactosemia:

(YouTube)