GALACTOSEMIA

TYPES

The three primary types of galactosemia include:

• (Type 1) Classic
• (Type 2) Galactokinase deficiency
• (Type 3) Galactose epimerase deficiency

About 1 in every 60,000 persons has Type I galactosemia. Types II and III have a lower prevalence.

You and your partner could be genetically tested for galactosemia if you are a parent or potential parent. Then, even if the results show you’re a carrier, you don’t have to limit your galactose intake. However, it means you can transmit it to your children.

SYMPTOMS

Your baby will look normal after birth if they have classic galactosemia. The symptoms will appear a few days once they start drinking formula containing lactose or breast milk—a milk sugar that has galactose. If this happens, the baby will experience:

• Vomiting
• Loss of appetite
• Diarrhea
• Jaundice

The condition can lead to serious weight loss and can affect the growth of the baby. If left untreated, gradually, your child might acquire cataracts and could be vulnerable to infections. They might have problems in the brain, kidney, and liver. 

DIAGNOSIS

Galactosemia is mostly diagnosed through tests that are part of newborn screening. Moreover, high amounts of galactose and low enzyme activity can be diagnosed with a blood test.

Furthermore, this disorder can also be identified with a urine test and genetic testing.

TREATMENT

Doctors treat babies with galactosemia through a low-galactose diet. Milk and other galactose or lactose meals cannot be digested because of this. However, there is no specific treatment for this condition. 

Even though a low-galactose diet could decrease or prevent the possibilities of some problems, it might not totally stop them. In other instances, children still have issues, including learning disability, speech delays, and other reproductive problems. 

Therefore, antibiotics, hormone replacement therapy, genetic counseling, and lifestyle changes will be necessary.