Understanding Galactosemia: Causes, symptoms and treatment
Have you heard of Galactosemia? Let's recognize this rare genetic disease further.
Breast milk is rich in a variety of things required by the little one, including essential nutrients, hormones, and antibodies that can protect against disease. However, a small portion of the baby is born with Galactosemia. Have you ever heard of it? If not, let's know the disease further.
What is Galactosemia?
Galactosemia is a rare metabolic condition that inhibits the body in processing galactose and converts it into energy. Galaktosa itself is one of the types of sugar found in breast milk and formula milk.
This disorder can cause a row of complaints in the child and can disrupt its health significantly if it is not handled appropriately. The disease is genetically derived, in which both parents become bearers of properties that cause the child to be able to experience the condition.
In the little one with Galactosemia, the gene associated with the enzyme to break down galactose into glucose is not functioning properly. This can lead to the buildup of galactose in the blood.
Signs and symptoms of galactosemia
In the newborn, little ones with galactosemia have not shown any signs and symptoms. These signs and symptoms will begin to appear a few days after the little one consumes lactose-consuming milk or formula, which is sugar from milk containing galactose.
Initially, the little ones will experience a decreased appetite, then start vomiting. Also, the little ones will look yellow and have diarrhea. This disease can also cause the minor to lack weight and difficulty in growing.
If you do not get the necessary treatment, as time goes by, the child can experience cataracts and become more susceptible to infection. Also, some of the complications that can arise are liver damage, kidney disorders, brain maturity disorders, and developmental disorders.
Some small ones can also experience problems with the motor capability and muscle growth. In girls, this condition may cause dysfunction of the ovaries.
Detecting and addressing Galactosemia
Then, how to detect when the child has a Galactosemia? In some developed countries, every newborn baby will get screening for several types of diseases, and galactosemia is one of them.
If the infant gets positive results for the galactosemia and shows the appropriate signs and symptoms, the doctor will perform an advanced check to confirm it. Advanced tests are usually included in blood and urine screening.
To deal with the detected minor, the doctor will usually arrange a diet that does not contain lactose and galactose in the patient. The doctor will advise avoiding cow's milk or food and beverage products containing cow's milk.
Besides eliminating the consumption of dairy products, usually, doctors also advise avoiding some fruits, vegetables, and sweets containing galactose.
Soy milk as a substitute milk
However, considering that the little one is really in need of nutrient-rich milk intake, soy-based formula milk (soy) can be used as a substitute.
Galactosemia is one of the rare congenital diseases. Therefore, if you observe that the child has signs and symptoms that resemble the condition, consult a doctor immediately for further evaluation.
Even though the little ones with galactosemia will not be able to process both galactose and lactose, early detection and treatment can help him to live normally.