Galactosemia - a rare hereditary disease caused by a metabolic disorder in which there is abnormal carbohydrate metabolism of galactose. Should not be confused with lactose intolerance galactosemia. These two diseases are not related to each other. Galactosemia genetically inherited, autosomal recessive type, and is caused by deficient activity of the enzyme responsible for the complete absorption of galactose organism.
For the first time the disease was described in 1917, and already in 1956 was revealed the main cause of the disease - a violation of the metabolism of galactose.
Galactosemia in newborns occurs in about 1 in 15-20 thousand. It is a rare disease that can sometimes be found in Japan, and much more - among the nomads of Irish (or Irish Gypsies), due to inbreeding within a relatively small gene pool.
Reasons for galactosemia
Today significant is the fact that galactosemia results from congenital defect of specific genes. These genes are responsible for the secretion of enzymes that convert galactose, ingested with food into glucose - the main nutrient for myocardium and brain cells.
If galactosemia galactose derivatives accumulate in the cells of the nervous system, internal organs and the lens of the eye, rendering them toxic effects. In this disease are frequent severe bacterial infection caused by an excess amount of galactose and suppression of white blood cells.
The symptoms of galactosemia
There are three types of galactosemia who have similar characteristics: a classic variant Duart and Negro option. The most common is the classic galactosemia.
The first symptoms of galactosemia in the child there is already a couple of days after birth. They arise against a background of breast feeding and food manifested as vomiting and disorders of the chair in the form of watery diarrhea. Toddler worried intestinal colic and bloating, jaundice and copious emissions.
In the absence of timely diagnosis of galactosemia in newborns the liver increases in size and develops nerve damage - decreased muscle tone, seizures.
Gradually galactosemia symptoms are manifested in marked retardation in mental and physical development, there may be a clouding of the lens (cataract). The main problem is cirrhosis of the liver, which in the absence of adequate treatment is a major cause of death.
It should also be noted that in some forms of galactosemia no symptoms immediately. For a long time the children can only be observed intolerance to dairy products, shown spastic abdominal pain and occasional diarrhea and vomiting. Galactosemia Duart relates generally to an asymptomatic form, which does not have a clinically overt expression, but it is a predisposing factor to various diseases of the liver.
The main complications of galactosemia is cirrhosis of the liver, bacterial sepsis, vitreous hemorrhage, and cataract, premature ovarian failure.
Diagnosis of galactosemia in newborns
To reduce the risk of complications is very important as much as possible early diagnosis of galactosemia. Today, in many maternity hospitals all newborns mandatory sample is taken for galactosemia (screening). Parents should be wary if symptoms of galactosemia: a child after the beginning of feeding breast milk or formula milk have diarrhea and vomiting, yellow skin and mucous membranes (especially the eyes of the sclera). Also, the presence of the disease may indicate excessive discharge of GAZ cars and bloating, retarded mental and physical development, stunted growth of the child. If there is the slightest suspicion, an urgent need to consult a pediatrician and tested for galactosemia.
Laboratory methods for the diagnosis of galactosemia are 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 apparent confirmation of the presence of galactosemia patient is genetic testing, through which doctors identify the mutant gene responsible for the disease.
For non-specific laboratory tests for galactosemia include blood chemistry and urinalysis. These methods allow you to determine how the disease progresses and the degree of internal organ involvement. For these purposes are widely used instrumental methods of diagnostics (electroencephalography, study the crystalline lens of the eye with a slit lamp, ultrasound of the abdomen, a needle biopsy of the liver).
The main criterion for the successful treatment of galactosemia is its early diagnosis. The treatment is very long and is performed by physicians and pediatricians in the outpatient setting.
The mainstay of treatment is a lactose-free diet. To date, available in a wide range you can buy special nutrient content of the mixture without milk sugar. Ration expands as the child grows. Enter in the diet of new products is carried out with extreme caution. Lactose-restricted diet to comply with the five-year age of the child, and can then be partially compensated enzymes malfunction. If galactosemia newborn is extremely heavy and cause a variety of complications, diet to keep for life. Thus excluded from the diet is almost all the products which are present in the composition of starch, lactose and sucrose. In this case, an alternative source of carbohydrates are fructose products.
Drug treatment of galactosemia usually symptomatic and aimed at improving the metabolic processes in the body, as well as the elimination of infringements of work of damaged organs. For this purpose, administered drugs that improve metabolism. If galactosemia denied taking any drugs without consulting a doctor.
To prevent galactosemia, given its hereditary character, prospective parents undergo genetic counseling is recommended. This is especially true of parents who already have one child with galactosemia. In addition, genetic counseling is recommended to go to all the next of kin of childbearing age.