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Treatment of galactosemia. Prices, reviews, ratings

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Treatment of galactosemia – conducting therapeutic therapy, the essence of which consists in organizing diet therapy and limiting the intake of galactose into the child's body.

Treatment of galactosemia – conducting therapeutic therapy, the essence of which consists in organizing diet therapy and limiting the intake of galactose into the child's body.

General information

Any disruptions in this naturally well-established metabolic system have a negative impact on health. In galactosemia, galactose metabolism is disrupted.

As a result, there is an excess of this substance and its derivatives in the blood, which leads to intoxication, damage to the central nervous system, organs of vision and digestion.

This disease is autosomal recessive, that is, for it to appear, a child must inherit one copy of the defective gene from each of the parents. The incidence rate among females and males is the same.

Children who have only one copy are carriers of the disease. In most cases, they are completely healthy or have minor signs of illness.

Procedure

Preparation

Timely diagnosis is the key to effective treatment and is aimed at reducing the risk of complications. To detect most hereditary diseases, mass examination of newborns (neonatal screening) is carried out.

If the presence of this disease is suspected, the child is prescribed an ultrasound of the abdominal organs, microscopy of the living eye, clinical blood and urine tests, consultation with other specialists (a pediatric neurologist, ophthalmologist and geneticist) is carried out.

Treatment of galactosemia

The main method of treating this pathological process is diet therapy, which consists of excluding from the patient's diet any galactose- and lactose-containing products, as well as potential sources of these substances (galactosides and nucleoproteins). These include all types of milk, including breast milk, formula, baked goods, margarine, candy, etc.

To replenish physiological needs for carbohydrates, patients are prescribed products containing fructose.

To improve the therapeutic effect, multivitamins, adenosine triphosphates, and cocarboxylase are prescribed.

Rehabilitation period

With proper treatment, irreversible changes leading to the development of mental retardation can be avoided. However, various speech disorders may occur, the correction of which is carried out during a consultation with a speech therapist.

Indications

Treatment is indicated after establishing an accurate diagnosis based on the patient's complaints and laboratory test data.

Clinical signs characteristic of galactosemia include:

  • yellowing of the skin and external mucous membranes;
  • enlarged abdomen, dyspeptic disorders;
  • delays in psychomotor development;
  • decreased hemoglobin concentration;
  • bilateral cataract.

Contraindications

There are no specific contraindications for treatment of galactosemia has not been found.

Complications

The course of the disease can be complicated by the following phenomena:

  • liver cirrhosis, leading to the replacement of normal liver tissue with fibrous stroma;
  • hemorrhages in the vitreous body;
  • bacterial sepsis;
  • ovarian exhaustion syndrome.

Prices and clinics


Treatment of galactosemia is carried out in public or private clinics by a pediatrician or neurologist. Detailed information about their work schedule, cost of admission is presented on the medical portal .

16 Jan 2022, 11:44
Pediatrician

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