Galactosemia is a rare genetic disorder that results from the body's inability to convert galactose into glucose. As a result of this dysfunction, toxic metabolites accumulate in galactosemia, resulting in damage to the internal organs. How common is galactosemia? What are its causes and symptoms? How do you recognize galactosemia? What are the treatment options for this disease and the prognosis for people with galactosaemia?

Galactosemiais an autosomal recessive disease. The condition for galactosemia to occur is the transfer of a copy of the modified gene by the father and mother.

Galactosemia is the build-up of excess galactose or glucose -1- phosphate due to a lack of enzymes responsible for their metabolism.

Galactose is sugar, the main source of which for humans is mother's milk consumed in the first days of life. The accumulation of toxic substances in the body has serious he alth effects, including in the form of damage to internal organs.

Galactosemia: Symptoms

The most characteristic symptoms of galactosemia are progressive damage to the liver and kidneys.

In the case of hepatic disorders, galactosemia manifests itself

  • jaundice
  • liver enlargement
  • hemorrhagic diathesis
  • swollen body

With kidney damage, glucose and galactose appear in the urine and metabolic acidosis.

Unspecific symptoms of galactosemia that should not be ignored are

  • vomiting
  • diarrhea
  • deterioration of general condition

IMPORTANT: the typical course of galactosemia is associated with increasing symptoms with the supply of milk.

Galactosemia: types

  • Classical galactosemia

Classical galactosemia is based on a deficiency of the GALT enzyme. In this form of galactosemia, the concentration of galactose in the blood increases, GAL-1-P, and the concentration of galactitol increases.

  • Galactosemia due to GALE deficiency

There are two forms of galactosemia: peripheral and generalized. In the peripheral form, the activity of the GALE enzyme decreases, but it is limited only to blood cells, e.g. erythrocytes, leukocytes.

Peripheral galactosemia is characterized byon a milder course and is recognized in neonatal screening tests that measure the concentration of galactose in the blood.

Generalized galactosemia, on the other hand, is severe in the neonatal period, and the decrease in enzyme activity affects many tissues, including liver.

  • Galactosemia due to GALK (galactokinase) deficiency

This form of galactosemia may have cataracts. Then there is an increase in the concentration of galactose in the blood and galactosuria - the excretion of galactose in the urine. Swelling of the brain is rare (in this case the concentration of galactitol increases)

Galactosemia: aftermath

The consequences of galactosemia include disorders of mental development, for example :

  • visual perception disorders
  • eye-hand coordination
  • problems with concentration

and neurological complications, e.g. :

  • reduced muscle tone
  • trembling of the upper limbs
  • problems with walking - the so-called incoherent gait

Significant complications of galactosemia are also skeletal mineralization disorders or ovarian dysfunction, e.g.

  • premature ovarian dysfunction
  • hypergonadotropic hypogonadism

Galactosemia: recognition

Classical galactosemia is diagnosed on the basis of laboratory diagnosis and clinical symptoms. In order to diagnose galactosemia, a test involving the determination of the activity of the enzyme galactose-1-phosphate (GALT) in erythrocytes should be performed. If it is inactive, galactosemia is found.

Other studies that may indicate galactosemia include:

  • blood galactose measurement
  • urine galactitol concentration measurement
  • blood galactose-1-phosphate measurement
  • paper screening test for GALT activity in newborns

Galactosemia: treatment

Treatment of galactosemia mainly consists in eliminating products containing galactose.

Products to be eliminated from the diet of a person with galactosemia:

  • milk, milk drinks
  • cream, processed cheese, yellow cheese, cottage cheese
  • butter
  • milk bread, toasted bread, cakes with milk or butter
  • offal, liver, brain, sausages
  • ready-made products with the addition of milk
  • soups creams
  • milk candy, milk chocolate
  • alcoholic beverages
  • drugs containing lactose

People suffering from galactosemia may reach for:

  • vegetable oils, lard, mayonnaise without any additionscream, margarine without the addition of milk
  • milk replacers
  • pasta, groats
  • eggs
  • meat, fish, cold cuts
  • fresh herbs
  • fruits: apples, oranges, bananas
  • vegetables: potatoes, zucchini, lettuce, onion, radish, carrot
  • mushrooms
  • sugar, honey

The complete elimination of galactose from the diet is practically impossible due to the widespread use of this sugar in nature. Therefore, it has been assumed that up to 125 mg of galactose per day can be consumed on a strictly galactose-free diet.

Important!

Following a dairy-free diet requires supplementation with calcium and vitamin D.

Daily calcium requirements are covered during infancy.

An additional supply of calcium is recommended only after reaching the age of one.

Children from 11 years of age should take 800 mg per day, adults - 1200 mg.

Category:

Genetic diseases