The analysis is performed on all galactosemia newborn. It may additionally be assigned: determining the content of galactose in urine and blood, load sample with glucose and galactose, EEG, abdominal ultrasound, genetic testing.
Comprehensive treatment of galactosemia is in compliance with lactose free diet, which is assigned to the first days of life.
What it is?
Galactosemia - a hereditary disease, which is based on metabolic disorder conversion path galactose to glucose (structural gene mutation responsible for the synthesis of the enzyme galactose-1-fosfaturidiltransferazy).
Causes of galactosemia
At the moment, scientists have studied the causes of galactosemia and all that is seen at the genetic level. If a healthy body when consuming foods containing lactose, the process of its digestion on carbohydrates occur without complications, and normal, then suffering from galactosemia is the opposite. They suffer from the dysfunction of this enzyme. As a result, the human body accumulates many toxins that are capable of destruction of vital organs. From this disease and develop diseases such as renal failure, affects the ovaries, brain, develop cirrhosis and cataracts.
Mainly significant changes in certain genes that control the process and the formation of certain enzymes. Because only they break down carbohydrates: galactose and glucose, which are so necessary for the body to supply the cells. From this we can conclude that the only reason for galactosemia is a pathologically modified galactose-1-fosfaturidiltransferaza. The gene which is responsible for the correct function of the enzyme, while mutation gives rise to various types of the disease. These include species such as the Negro type of disease, Duart and classic.
Interesting Facts
Galactosemia have described for the first time in 1917, but at that time, scientists and physicians have not yet understood the true causes of this disease. After almost 40 years, in 1956, a group of researchers led by scientists from Germany Kelkerom found that develops due to disorders galactosemia galactose metabolism. Later, with the advent of information on human genetic association with disease has been elucidated hereditary the nature of the disease and identified the genes responsible for normal metabolism of sugars, including galactose.
At present, the frequency of the incidence of galactosemia is 1 sick 60 000 live births. It is noteworthy that, unlike a number of other genetic diseases, the incidence of galactosemia is inhomogeneous in the world. For example, in Japan, galactosemia is extremely rare. To date, the largest percentage of newborns with this pathology is found among the population of Ireland nomadic peoples (Irish gypsies). It is believed that this fact is caused by frequent inbreeding within tribes (inbreeding).
symptoms
Galactosemia is manifested in the first days and weeks of life, severe jaundice, enlarged liver, vomiting, refusal of food, weight loss, neurological symptoms (convulsions, nystagmus (involuntary movement of eyeballs), hypotonia muscle; further observed lag in the physical and psychological development, there is a cataract.
Disease severity may vary considerably; sometimes the only manifestation of galactosemia are only cataracts or milk intolerance. Classical galactosemia is often life-threatening character. One of the variants of the disease - a form of Duart - asymptomatic, although there was a tendency of such persons to chronic liver disease.
In a laboratory study in the blood is determined galactose, the contents of which can be up to 0.8 g / l; special techniques (chromatography) galactose can be detected in urine. The enzyme activity in erythrocytes drastically reduced or not detected, the content of enzymes is increased 10-20 times compared with the norm. In the presence of jaundice content increases both direct (diglucuronide) and indirect (free), bilirubin.
Characterized and other biochemical signs of liver damage (hypoproteinemia, hypoalbuminemia, positive samples for violation kolloidoustoychivosti proteins). Greatly reduced resistance to infection. It might appear, and hemorrhagic diathesis due to a decrease proteinosinteticheskoy liver function and reduce the number of platelets - petechiae.
diagnosis of galactosemia
To reduce the risk of complications is very important as much as possible early diagnosis of galactosemia. To date, in many maternity hospitals all newborns compulsorily taken for galactosemia analysis (screening).
Laboratory methods for diagnosis of galactosemia reduced mainly to detect high content of galactose in urine and blood. It helps to establish the correct diagnosis tests the absorption of D-xylose and stress tests to galactose and glucose. The undoubted confirmation of the presence of galactosemia patient is genetic testing, through which doctors identify the mutated gene responsible for development of the disease.
For non-specific laboratory tests for galactosemia include blood chemistry and urinalysis. These methods allow us to determine how the disease progresses and degree of internal organ involvement. For these purposes are widely used instrumental methods of diagnosis (electroencephalography, eye lens to study with the help of a slit lamp, ultrasound of the abdominal cavity, fine needle aspiration liver).
galactosemia treatment
The main role in the treatment of galactosemia belongs dietetics. Feature food is lifelong exclusion from the diet of foods containing lactose and galactose: any milk (female, cow, goat, infant formulas, mixtures of low-lactose and others.), all dairy products, bread, pastries, sausages, chocolates, margarine and etc. When galactosemia prohibited the use of vegetable and animal food containing potential sources of galactose - galactosides (bean, soybean) and nucleoproteins (kidney, liver, eggs, etc.).
Children suffering from galactosemia, are provided with special blends based on soy protein isolate, casein hydrolyzate, synthetic amino acids, as well as lactose-free milk kazeinpredominantnymi mixtures. With 4 months of age are administered fruit and berry juice; from 4.5 months - fruit puree; 5 months - vegetable puree; from 5.5 months - dairy porridge made from corn, buckwheat or rice flour in a specialized breeding mixture; 6 months - meat Lure based on rabbit meat, chicken, turkey, beef; 8 months - fish. An alternative source of carbohydrates for patients with galactosemia are products based on fructose.
For medical reasons, in severe cases, galactosemia, prescribe a blood transfusion, blood transfusion is carried out partial and pour in the plasma. Among the drugs for treatment can be administered Orotate potassium ATP, cocarboxylase, vitamins of group B.
Forecast
If treatment is started in the first days of life, the development of cirrhosis, mental retardation and cataracts are avoided. If therapy is initiated at a later date, and the central nervous system and liver damage has occurred, the disease progression is slowed. Severe forms of galactosemia can end fatally.
Children with galactosemia receive disability status for life and are followed up by a pediatrician, geneticist, nutritionist, an ophthalmologist and a neurologist.
prevention
Prevention of the disease is to assess the probability of its occurrence in the child and early diagnosis. For this purpose carried out:
- Identifying families at high risk of disease;
- screening methods for newborn screening;
- Early transfer to dairy feeding the detection of disease;
- genetic counseling families with galactosemia patients;
- restriction of the use of dairy products for pregnant women at risk.
