There is a type of baby who is born unable to eat breast milk or formula milk...

Author: Wang Huahong, Chief Physician, Peking University First Hospital

Reviewer: Shang Zhanmin, Chief Physician, Beijing Chaoyang Hospital (West Campus), Capital Medical University

As we all know, breast milk is rich in nutrients that can help babies grow better. Even if some mothers cannot breastfeed due to personal reasons, they can choose formula milk to meet the baby's nutritional needs.

However, some babies, whether they are breastfed, formula-fed or fed with other milk products, will experience vomiting, diarrhea and other discomfort symptoms. This is because they suffer from a disease - galactosemia.

1. What is galactosemia?

Under normal circumstances, after we consume dairy products, the lactose in them will be broken down into galactose and glucose by the human body's lactase.

Glucose is absorbed and utilized by the human body to provide energy for the body's growth, development and life activities, while galactose needs to be converted by galactase to become glucose.

If the human body lacks lactase, it will not be able to completely digest the lactose in dairy products, resulting in symptoms such as abdominal pain and diarrhea. This is the familiar "lactose intolerance".

If the human body lacks galactosidase, galactose will continue to accumulate in the body, leading to more serious symptoms and organ damage.

Galactosemia is a disease caused by the lack of galactosidase in the body. It is a rare disease and also an autosomal recessive genetic disease.

2. If parents do not have galactosemia, can they give birth to a child with galactosemia?

If neither of the parents has galactosemia, but the child has galactosemia, the child is called the first witness, which means that at least one of his parents has a chromosomal abnormality, or both parents have a chromosomal abnormality.

Galactosemia is a recessive genetic disease, so people can carry this gene but not show it. The most important thing is that it will affect their offspring.

Therefore, for patients or carriers of galactosemia, it is necessary to undergo prenatal examination and diagnosis to see if there are any problems with the fetus's genes.

Figure 1 Original copyright image, no permission to reprint

If the baby is normal, or is just a carrier, there is no problem. If the baby is a galactosemia patient, you need to seek help from a professional doctor.

3. What symptoms does galactosemia cause?

The direct problem caused by galactosemia is the feeding problem of young infants, including breast milk and ordinary formula milk, which can cause vomiting and diarrhea in babies. If a newborn baby has these symptoms, you must be alert to this disease.

In addition, if galactose is deposited in different organs, it will cause damage to the corresponding organs, resulting in a series of symptoms.

For example, the liver is the main organ for sugar metabolism, so galactose easily accumulates in the liver, leading to decreased liver function and causing jaundice. The baby will then have symptoms such as yellow sclera of the eyes and yellow skin.

Of course, healthy newborns will also have jaundice, but this jaundice will disappear on its own 1-2 weeks after birth, which we call physiological jaundice. However, the jaundice caused by galactosemia will not disappear on its own, so persistent jaundice is also one of the important symptoms of galactosemia.

If galactose is deposited in the eye, the lens will be affected, leading to abnormal vision development.

If galactose is deposited in the brain, it may cause cerebral edema, and the child will become irritable and cry. In severe cases, intracranial pressure may increase, and then develop into brain herniation, which is life-threatening.

Therefore, for children with galactosemia, they must not consume breast milk, milk powder or other lactose-containing dairy products before the age of 3. They can only choose milk powder that does not contain lactose or galactose.

Figure 2 Original copyright image, no permission to reprint

At the same time, the energy needed for children's growth and development can be met by feeding them some starchy foods such as rice porridge, steamed buns, and rice.

4. Can galactosemia be treated with medication?

Galactosemia is a genetic problem, so there is currently no drug that can be used to treat galactosemia. As for whether these pathogenic genes can be removed or repaired in the future, it will take time to verify.

For such babies, what can be done now is not to eat foods containing lactose and galactose. Whether the child can eat small amounts of lactose after the age of three depends on the genetic situation and clinical symptoms.

Because there are three genes for metabolizing galactose, some children may only lack one of them, so they can still consume a certain amount of lactose or galactose in the future. If all three genes are missing, they will definitely not be able to eat these foods.