galactosemia

Content

  • galactosemia
  • Causes
  • Manifestations
  • diet therapy
  • Sample menu



  • galactosemia

    The disease was first described in 1908While the baby was severely depleted, it has been enlarged liver and spleen, and in the urine was determined by galactose, which disappeared immediately after eating ceased to give milk.


    Causes

    galactosemiaGalactose enters the body in the form of milksugar (lactose), which under the action of specific enzyme (galactose-1-phosphate uridiltransferazy) is converted first into galactose-1-phosphate and then into glycogen.

    If galactosemia is the amount of enzyme,splitting galactose in the liver and red blood cells (erythrocytes), down (digest only 2-3% galactose). By itself, the lack of the enzyme to the disease does not lead, but when ingested milk nedorasscheplennye products galactose (galactose-1-phosphate) accumulate in the blood, kidneys, brain, tongue, adrenal glands, heart, lens of the eye and have a damaging effect on the individual organs and on the body as a whole.

    The content of glucose-1-phosphate in erythrocytesincreases by 10-20 times, because of which the oxygen transport is reduced by 20-30 times, broken tissue respiration. The reduced blood sugar levels, which is the cause of impaired growth and development of children. Deposition unsplit galactose metabolic products in the lens of the eye leads to the development of cataracts. Severe forms of galactosemia flow may be associated with the fact that the child's body was subjected to the damaging action of galactose metabolic products already in utero, when a pregnant consumed a milk.


    Manifestations

    In severe galactosemia flow at eachreceiving milk develop vomiting, diarrhea, decreased body weight quickly. Almost always there is jaundice, but its symptoms can take place, as in the physiological jaundice, within 2-3 weeks after birth, and can be stored up to 8 months. The liver is increased gradually and can reach large sizes. The spleen is also increasing, but not enough. Bloating, and it visible veins.

    galactosemiaChildren limp, refuse to eat. More than 50% of the cataract, which can be found at the end of the first month of life. Tendon reflexes are reduced, and a child with a lag starts to keep his head. There may be twitching of the eyeballs, and even seizures. Severe, usually develops in the first weeks and even days of a child's life. In less severe disease can only vomiting after taking milk. Later increases liver and appears cataracts. The child lags behind in weight and height, and later starts to hold his head and sit.

    Described and asymptomatic (asymptomatic) formgalactosemia, in which the disease is detected incidentally during a biochemical examination of blood. After that, parents may think that the child does not like milk and avoid taking it. There are cases when the baby refused the mother's milk. Nevertheless, even in mild galactose metabolic products are damaging to the liver, and therefore a disposition to her chronic illness.

    In order to make a diagnosis of galactosemia,You need to get laboratory confirmation. In blood galactose level increases to 0.8 g / l. Using the method of chromatography and found galactose in urine. Samples with galactose load increase its level in blood for several hours, 40-50% galactose thus excreted in urine. Load with glucose gives a normal response (normal curve of blood sugar).

    Prognosis in Acute duringunfavorable: death may occur shortly after birth from exhaustion (cachexia) and cirrhosis. If the child is still alive, he developed blindness due to cataracts and dementia, death occurs within a few months of cirrhosis of the liver.

    The prognosis for severe cases improved by diet therapy, with milder forms of the disease is compatible with life.


    diet therapy

    If treatment is started with the first days of life, do not develop cirrhosis, cataracts, and mental retardation (dementia) can be avoided.

    galactosemiaIf diet therapy commenced at a later date,when a child is already lagging behind in the development and pathology of the liver, the disease can only be stopped by preventing further deterioration. However, expect a recovery is no longer necessary.

    Treatment is carried out within 3 years of the specialdiet in which galactose is absent. The complexity of nutritional therapy is that breast milk deprive a child falls from the newborn period, ie before the first symptoms appear. This is associated with severe complications, which developed, not cured.

    Infants given special mixture of lactose: soyaval, nutramigen (protein hydrolyzate enriched vegetable oil, sucrose, vitamins, minerals), lactose-free enpit. You can cook this mixture on the basis of the eggs with sugar, margarine and rice flour.

    In severe cases, exchange transfusion is performedblood, plasma, a special drug treatment (prescribe potassium orotate, ATP kokarboksilazu, vitamins). In cases where such diseases are known in the family, the power of a pregnant excluded milk, as well as peas, beans, lentils, soybeans, potatoes, cocoa, chocolate, liver and other offal.

    The principles of diet therapy

    • Early administration of diet (the first infant feeding, if there is a suspicion of the disease).
    • The presence of a full-fledged substitute for human milk does not contain lactose.
    • Inclusion in the diet of the child as it grows a variety of approved products.
    • Limit consumption of milk and dairy products pregnant women who have a high risk of having a baby with galactosemia.

    The main component of low-lactose mixtureis dry instant milk protein casein. It is obtained from skimmed milk by precipitation of casein, and then dissolving it lemon acid salts and drying by spraying.

    The composition of such mixtures are also included cornbutter and milk fat in a ratio of 25:75, sucrose, malt extract or maltose, dextrin, starch, flour and infant diet, vitamins A, D, E, PP, C, B, macro- and microelements (iron, sodium , potassium, calcium, phosphorus, magnesium).

    Low-mix - A powder, in appearance and taste resembling milk.

    PREPARATION 12% mixture of: take 12 g of dry powder, add 100 ml of warm boiled water, stir thoroughly until smooth and bring to a boil, pour into sterile bottles and refrigerate. Store in the refrigerator should be.

    Low-products come in several forms.

    • Low-lactose milk formula with malt extract (for children up to 2 months).
    • Low-milk mixture to flour (rice, buckwheat, oats) and oatmeal for children older than 2 months.
    • Low-lactose milk for children over 6 months, and as a milk substitute for cooking.



    Sample menu

    Menu (grams) using a low-lactose milk at galactosemia (age - 7 months, weight - 8 kg):

    The first feeding (6.00 hours). Low-lactose (12% bonus) milk - 200.

    The second feeding (10.00 hours). Porridge on low-lactose (a 12%), milk - 150, melted butter - 5 egg yolk - 1/2 pieces of bread - 50, applesauce - 50.

    Third feeding (14.00 hours). Broth - 30, on the low-lactose vegetable puree (12% strength) milk - 150, vegetable oil - 5, mashed meat - 30, bread - 5, fruit jelly - 30.

    Fourth breast (18.00). Low-lactose (12% bonus) milk - 200, apple juice - 50 biscuits - 5.

    Fifth-feeding (22.00 hours). Low-lactose (12% bonus) milk - 200.

    galactosemiaAt the slightest suspicion of lactose intolerance newborn transferred to low-lactose mixture of malt extract as long as the diagnosis is finally removed or delivered.

    If diagnosed in the course of biochemical researchBlood has not been confirmed, the child begins to again receive breast milk. If the diagnosis is still installed correctly, up to two months of age the child should receive low-lactose mixture of malt extract, up to 6 months - Low-mixture with the flour, and 6 months - low-lactose milk.

    Daily volume of infant formula, multiplicityfeedings and timing of introduction of complementary foods - all this is carried out according to the norms established for healthy children, excluding offal, legumes, coffee, cocoa, chocolate. Children older than one year are resolved fruit candies, jellies, jams.

    Diet therapy is carried out for 3 years under thesupervision of a pediatrician, dietician, ophthalmologist, neurologist, under the control of the biochemical analysis of blood on galactose. Children are usually well tolerated and willingly drink Low-mixture and consume meals prepared on their basis.

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