Health

What is galactosemia? »Its definition and meaning

Anonim

Galactosemia is a congenital disorder characterized by the difficulty of the human body in metabolizing galactose (a lactose sugar). This disability is due to the fact that the person inherits a deficient gene from each of their parents, since both father and mother are carriers of this gene that causes the disease.

People with galactosemia do not have the ability to fully break down the simple sugar galactose. Therefore, they cannot consume any food containing milk, human or animal.

This disease is usually detected at an early age. This is why doctors frequently examine babies to determine whether or not they have the disease. Babies with galactosemia usually have the following symptoms: jaundice, vomiting, diarrhea. It should be noted that these symptoms are not specific to this condition, and this may be the cause of a late diagnosis, especially when the symptoms are very mild.

Babies who underwent a test of blood or urine to give the three enzymes necessary to transform galactose into glucose. In a normal situation, when a person ingests a product containing lactose, the metabolism immediately breaks down this lactose into glucose and galactose. This is why when the body cannot decrease galactose, it accumulates and causes damage to organs such as the kidneys, liver, and central nervous system, among others.

The two types of galactosemia that specialists have treated the most have been classic galactosemia and galactosemia duarte. In the first, the subject cannot degrade lactose because it does not synthesize the GALT enzyme. While in the second, if it is possible to synthesize the enzyme but poorly.

The common symptoms of this condition are: irritability, seizures, the baby feeds poorly since he does not want to drink milk, low weight, jaundice, vomiting, lethargy. It should be noted that babies can manifest symptoms, a few days after birth, if they consume breast milk or artificial milk that contains lactose.

For those who suffer from this condition, it is recommended not to consume for the rest of their life any product that contains or comes from milk. It is important to check the products at the time of purchase, in order to verify if lactose is among its components. Mothers who have children with this condition are also recommended to feed them (if they are babies) with soy-based or meat-based milk, they can also use other formula milk that does not contain lactose.