Galactosemia

Galactosemia – the rare hereditary disease caused by disbolism at which there is an abnormal process of metabolism of carbohydrates of a galactose. It is impossible to confuse a galactosemia to a lactose intolerance. These two diseases are not connected among themselves in any way. The galactosemia is inherited genetically, autosomal and recessive type, and arises owing to insufficient activity of the enzyme which is responsible for full assimilation of a galactose with an organism.

For the first time this disease was described in 1917, and in 1956 the main etiology – disturbance of metabolism of a galactose was established.

The galactosemia occurs at newborns approximately in 1 case from 15-20 thousand. Very rare disease which sometimes can be met in Japan and is much more often - among the Irish nomads (or the Irish Roma) that is caused by inbreeding within rather small gene pool.

Galactosemia reasons

Today the fact that the galactosemia results from inborn defect of certain genes is reliable. These genes are responsible for secretion of the enzymes transforming the galactose coming to an organism together with food to glucose – the main nutrient for a myocardium and cells of a brain.

At a galactosemia derivative galactoses collect in cells of a nervous system, internals and lens, making on them toxic impact. At this disease the frequent heavy bacterial infections caused by excess quantity of a galactose and suppression of function of leukocytes are possible.

Galactosemia symptoms

There are three types of a galactosemia which have similar signs: classical, option to Dyuarta and Black option. The most widespread is the classical galactosemia.

The first symptoms of a galactosemia at the child arise already later couple of days after the birth. There are they against the background of feeding by milk food and are shown as vomiting and frustration of a chair in the form of watery diarrheas. The kid is disturbed by intestinal colic and abdominal distention, jaundice and plentiful release of gases develops.

In the absence of timely diagnosis of a galactosemia at newborns the liver in a size increases and defeat of a nervous system – decrease in a muscle tone, a spasm develops.

Gradually symptoms of a galactosemia are shown in the expressed lag in mental and physical development, the phacoscotasmus (cataract) can be observed. The main problem is cirrhosis which in the absence of adequate treatment is the main reason for a lethal outcome.

It is also necessary to note that at some forms of a galactosemia symptoms are not shown at once. The long time at children can be observed only the intolerance of dairy products which is shown spastic abdominal pains, and also periodic ponosa and vomiting. The galactosemia to Dyuarta belongs in general to an asymptomatic form which clinically has no explicit expression, however it is the contributing factor to various diseases of a liver.

The main complications of a galactosemia is cirrhosis, bacterial sepsis, a vitreous hemorrhage and a phacoscotasmus, premature insufficiency of ovaries.

Diagnosis of a galactosemia at newborns

For the purpose of decrease in risk of development of complications earlier diagnosis of a galactosemia is very important. Today in many maternity homes at all newborns the analysis on a galactosemia (screening) without fail undertakes. Parents should prick up the ears at emergence of the following symptoms of a galactosemia: the child after the beginning has feedings by breast milk or milk mix there is a diarrhea and vomiting, also integuments turn yellow mucous (first of all scleras of eyes). Also the plentiful otkhozhdeniye of GAZ cars and swelling of a tummy, lag in mental and physical development, the slowed-down growth of the child can demonstrate existence of a disease. If there is though the slightest suspicion, it is necessary to consult urgently with the pediatrician and to make the test on a galactosemia.

Laboratory diagnostic methods of a galactosemia come down preferential to detection of the increased maintenance of a galactose in urine and blood. Test for absorption of D-xylose and load tests with a galactose and glucose helps to establish the correct diagnosis. As undoubted confirmation of existence of a galactosemia at the patient serves genetic testing thanks to which doctors reveal the mutant gene which is responsible for development of a disease.

Biochemical analysis of blood and the general analysis of urine belong to nonspecific laboratory analyses on a galactosemia. These methods allow to define how the disease and extent of damage of internals progresses. Widely apply tool diagnostic methods to the same purposes (an electroencephalography, studying of lens by means of a slit lamp, ultrasonography of abdominal organs, a puncture biopsy of a liver).

Treatment of a galactosemia

The main criterion of successful treatment of a galactosemia is its early diagnosis. Treatment very long is also performed by therapists and pediatricians in out-patient conditions.

Basis of treatment is the delactosed diet. Today on sale in wide assortment it is possible to buy special nutritious mixes without the content of milk sugar. The diet extends in process of the child's growing. Input in a food allowance of new products is carried out extremely carefully. Keep to a diet with restriction of lactose to five-year age of the child then partial compensation of misoperation of enzymes is possible. If the galactosemia extremely heavy also causes various complications in the newborn, the diet is kept for life. At the same time practically all products as a part of which there is a starch, lactose and sucrose are excluded from a diet. In this case products with the content of fructose become an alternative source of carbohydrates.

Drug treatment of a galactosemia, as a rule, symptomatic and directionally on improvement of exchange processes in an organism, and also on elimination of disturbances of work of the damaged bodies. For this purpose appoint the medicines improving metabolism. At a galactosemia reception of any medicines without preliminary consultation with the doctor is prohibited.

For prevention of a galactosemia, considering its hereditary character, future parents are recommended to undergo genetic consultation. Especially it concerns parents who already have one child with a galactosemia. Besides, genetic consultation is recommended to be undergone to all immediate family of childbearing age.