Galactosemia characteristics

Problems digesting milk

What is galactosemia?

Galactosemia is a hereditary metabolic disorder characterized by the inability to metabolize galactose from milk or dairy products derived from milk, such as yogurt, cheese, cream, butter, kefir, etc.

Galactosemia manifests itself after birth when a baby consumes the aforementioned foods. Babies with galactosemia do not tolerate animal milk or human milk and, if it is not avoided, can cause very serious damage to their body.

In case of continuing with the consumption of this type of milk, dairy products or foods containing galactose, the death of the affected person may occur.

Consequences of galactosemia

Milk and dairy products: yogurt and cheese

Milk and dairy products: yogurt and cheese

Among the main complications that can produce this disorder are the following:

  • Cirrhosis
  • Mental disorders
  • Growth anomalies
  • Language disfunctions: verbal dyspraxia
  • Mobility problems
  • Infections with the bacteria Escherichia coli
  • Cataracts
  • Ovulation problems that can lead to possible dysmenorrhea or amenorrhea , etc.

Causes of galactosemia

Milk contains a sugar, called lactose. In turn, the lactose is formed in equal parts by galactose and glucose.

In order for galactose to be profited , it must be transformed into glucose. The organism of people with galactosemia is unable to perform this transformation because it lacks any of the three enzymes responsible for this process.

  • When galactose can not be metabolized, it can be stored in the body, causing irreparable damage to the liver, kidneys and eyes of the person who consumes it. Galactosemia may also be responsible for behavior problems, learning and growth.

Galactosemia should not be confused with lactose intolerance. In this case, it is a deficiency of the lactase enzyme that prevents the lactose from digesting well, producing intestinal problems, which in no case are as serious as those of galactosemia and without long-term repercussions.

Symptoms of galactosemia

Breastfeeding mother and child

Breastfeeding mother and child

Being a hereditary disease, galactosemia appears in the baby after feeding on the milk of his mother. Among the main symptoms we have the following:

  • Rejection of breast milk
  • Nervousness
  • Lack of weight gain
  • Vomiting
  • Diarrhea
  • Jaundice
  • Personal anguish
  • Tendency to sleep a lot
  • Etc.

Types of galactosemia

The impossibility of metabolizing human or animal milk is due to the lack of three enzymes that are responsible for the digestion of galactose. Depending on which of them is deficient, we have the following three types of galactosemia:

  • Deficiency of galactose 1phosphate uridyltransferase (GALT): It is the most common and the most severe. It is the one that causes most of the known symptoms.
  • Deficiency of UDP galactose 4epimerase (GALE): It can manifest with the same symptoms as the previous variety or no symptoms.
  • Deficiency of galactokinase (GALK): It manifests in the form of cataracts, without affecting the main organs.

How to prevent damage caused by galactosemia ?

The best way to avoid the problems caused by galactosemia is prevention. In principle it is very important to know if the baby that is going to be conceived is likely to have this disorder.

This is basic in people who have family members with galactosemia. The importance of discovering this problem as soon as possible has led some countries to carry out systematic analyzes of newborns to detect it before starting to consume breast milk.

There are analyzes and tests that allow to know if some member of the couple can genetically transmit this disorder to their children . In this case, the doctor can advise the couple what decision to make. We must not forget that this disorder can cause damage to the nervous system of the baby, therefore, any pregnant woman, who may be a carrier of this genetic disorder, must dispense with the consumption of foods with galactose.

If in a baby already born, there are symptoms that may suggest the existence of this disorder, a visit to the doctor is necessary so that, through a series of medical tests, it can be diagnosed.

Treatment of galactosemia

In case the tests are positive, it is necessary to stop giving the baby milk or dairy products that contain galactose. Similarly, foods that may contain this type of sugar will also be avoided. (See foods that contain milk and foods that do not contain milk)

These restrictions include breast milk that also has galactose.

Instead of this type of milks, there are products that are obtained from soy or other lactose-free products

* Related information: Milk in intestinal diseases

punto rojoMore information on milk problems.

This article was endorsed by Errachid El Fadel - Medical intern at University Hospital IBN Rochd Casablanca
Written by Editorial Botanical-online team in charge of content writing

20 October, 2021

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