Galactosemia

What is galactosemia?

Galactosemia is an autosomal recessive disease characterized by impaired metabolism of the simple sugar – galactose. A small amount of galactose is found in most foods. It is one of the elements of lactose, which is contained in all dairy products and many baby foods. The signs and symptoms of this disease result from the inability to use galactose for energy production.

Researchers have identified several forms of the disease. Each form is caused by mutations in a specific gene and they affect different enzymes involved in the breakdown of galactose. Classical galactosemia, also known as type I, is the most common form of the disease. Type II, also called galactokinase deficiency, and type III, also called galactose epimerase deficiency, cause different signs and symptoms.

If infants with the classic form of the disease are not promptly treated with a low-galactose diet, life-threatening complications can develop within a few days after birth. Affected babies usually have difficulty feeding, lack energy, and do not gain weight or grow as expected.

They can also develop jaundice and their livers can be damaged. Other serious complications that could occur are systemic purulent infections /sepsis/ and shock. Affected children are also at risk of developmental delays, speech difficulties and cognitive impairment. Girls with the classic form of the disease may have reproductive problems.

What are the symptoms?

Babies with the disease may develop symptoms in the first few days of life if they are fed cow’s milk or breast milk that contains lactose. Symptoms may be due to a serious bacterial infection of the blood caused by the Escherichia coli bacterium:

• Convulsions;
• Irritability;
• Lethargy;
• Baby does not want to eat food that contains milk;
• Vomiting.

What are the causes of galactosemia?

The disease is hereditary and is caused by a rare gene mutation. If both parents are carriers of the mutated gene, the probability that the child will suffer from this disease is 25%. The classic form occurs in 1 in 30,000 to 60,000 newborns. The other two types – type II and type III occur much less often – 1 in every 100,000 newborns.

Treatment of galactosemia

Sufferers of this disease must avoid for life all types of milk, milk products, including dry milk, as well as all other foods containing galactose. It is essential that you read the product content labels.

Babies can be fed with:

• Soy milk;
• Protein hydrolyzate;
• Other lactose-free foods;

Calcium food supplements are recommended.

Antibiotics are prescribed to prevent sepsis in infants who have ingested galactose. With age, there is a weakening of this specific metabolic syndrome. It is also recommended that mothers of affected children be placed on a galactose-free diet during planned subsequent pregnancies.

Prevention

It is useful to be aware of the family history of the disease. If you have a family history and wish to have children, genetic counseling will help determine whether you carry the mutated genes. You will also be aware of prenatal testing options for the disease. Early diagnosis before birth and the exclusion of foods containing galactose from the pregnant woman’s menu are highly effective.