Galactosemia: how to diagnose? See symptoms and treatment


What is Galactosemia?

Galactosemia is a disease in which the body does not metabolize galactose to glucose, causing the enzyme activity to suffer deficiency. Galactose is found in human milk, bovine milk and other dairy products.

Free galactose can still be found in fruits, such as bananas , tomatoes and apples. The monosaccharide is formed from the hydrolysis of lactose (milk sugar). Its main function is energetic.

The disease is genetic, and therefore, there is no cure, most of the time. In Brazil, the estimate is that for every 20 thousand people, one has galactose. It is the second country that suffers most from the disease, second only to South Africa. And people can identify the disease from birth.


The disease is hereditary, passing from parents to children, and this is its main cause.

Men and women can suffer from the disease. White people are more likely to have the disease than people of another race.

Due to the difficulty of metabolizing the monosaccharide, galactose accumulates and ends up causing health problems, which can affect the brain, kidneys and liver.

What are the types of Galactosemia?

Galactosemia manifests itself in several ways, they are:

Type 1 galactosemia:

It is the most common form of the disease and the one that causes the most health problems. It is also known as galactose-1-P uridyl transferase (GALT).

People who have this problem need to be treated quickly, because if it doesn’t, liver, kidney, eye ( cataract ), neurological problems and even early ovarian failure (in women) can arise.

Type 2 galactosemia:

In this type, there are defects in the enzyme galactokinase, causing galactose to accumulate, causing eye problems for the patient.

Type 3 galactosemia:

It is the rarest form. It is caused by the defect of the enzyme uridyl diphospho galactose-4-epimerase.

Duarte variant:

It is the partial activity of GALT and can occur in several variants, but the most common is Duarte. In this case, the patient has a Duarte and a classic allele, causing an enzyme activity that corresponds to 25% of normal.

Patients who have two Duarte alleles increase to 50% of normal enzyme activity.

Other types:

There are other types that have no symptoms and are benign, causing no health problems.

Symptoms of Galactosemia

It is very common for symptoms to appear even when the baby is newborn. This occurs because of breast milk, or because of the diet containing bovine milk or milk products.

When realizing the main symptoms, it is necessary to make an appointment with the doctor, especially if there are already cases of galactosemia in the family.

The main symptoms of the disease are:

  • Seizure;
  • Irritability;
  • Lethargy;
  • Craving and vomiting;
  • Baby refusing the breast;
  • Yellowed skin and eyes (jaundice);
  • Insufficiency in weight gain;
  • Ascites;
  • Increase in the size of the liver.

Risk factors

The only risk factor in galactosemia is hereditary and genetic factors. If you are related to people who have the disease, the chances of you contracting are greater.

How the diagnosis of Galactosemia is given

The doctors indicated to diagnose the problem are:

  • Pediatricians;
  • Nutritionists;
  • Neurologists;
  • Ophthalmologists;
  • Endocrinologistas;
  • Metabologista;
  • General practitioner.

The doctor consulted will ask routine questions and investigate the symptoms to determine what the disease is. In addition, some tests may be ordered to make the diagnosis more accurate:

  • Check the enzymatic activity of red blood cells;
  • Blood culture by infection with E. colis bacteria;
  • Mediation of enzymes related to galactose metabolism.

After performing the exams and talking to the doctor, he will be able to give the correct diagnosis. Soon after that, treatment must begin for the symptoms to stop.

Those mentioned above are procedures performed with children and adults, but there is still a diagnosis that can be made in newborns or in babies who are not yet born.

During the prenatal period, an amniocentesis test can be performed. It consists of removing a liquid from the mother’s belly and, from that liquid, the galactosemia test can be performed.

In addition, after the baby is born, the heel prick test is performed to detect galactosemia and other various diseases that can occur in the newborn.

Treatment for Galactosemia

The main way to treat galactosemia is to remove foods containing galactose and lactose from the diet, such as breast milk, beef, powder and derivatives.

Restricting these items already greatly improves the patient’s life, but some side effects may still arise, such as ovarian dysfunction, speech disorders and learning disabilities.


If galactosemia is not treated correctly, serious health problems can arise, such as:

  • Hepatical cirrhosis;
  • Delay in speech development;
  • Irregular menstruation;
  • Neurological delay
  • Waterfall;
  • Bacterial infections;
  • Tremors and uncontrollable motor functions.

How to live with the problem?

Patients who have galactosemia should have a restricted diet. Do not ingest milk and milk products, whether human, bovine or powdered. In these cases, it is essential that the patient and his family are always attentive to the food labels, to avoid consumption, since most of the food contains milk.

In order for patients to be able to have a good diet, some changes can be made, for example: eating soy milk or meat based. Calcium supplements will also be recommended to the patient, as milk is one of the biggest sources of the substance.


There is no way to prevent galactosemia, as it is a hereditary disease. What can be done is, knowing of a relative who has, perform tests from birth so that the diagnosis is given quickly so that the patient does not suffer from the symptoms.

It is always important to be aware of the symptoms, so that, at the first sign, you can already contact your doctor and treat your problem right away, whatever. Keeping your health up to date is the best way to live longer!

Share this text with your family and friends so that other people are aware of the disease and can identify it from the beginning to avoid possible problems.