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Galactosemia is a rare, inherited, metabolic genetic disease. The body of a person suffering from galactosemia does not convert sugar – galactose, which is supplied with food containing lactose, or milk sugar – into glucose necessary for the proper functioning of the organs of the whole body. This disorder is caused by a lack of proper digestive enzymes, responsible for the digestion of sugars. Galactosemia can also be caused by complex metabolic disorders.
Glucose plays a very important role in the body’s work: it provides energy to cells. In a healthy body galactose, i.e. simple sugar contained in lactose, is converted into glucose. If this process is disturbed, metabolites accumulate in organ tissues, i.e. organic and inorganic compounds formed as a result of metabolism, which are synthesized and broken down in a healthy organism. Caused galactosemia the lack of appropriate enzymes or disturbances in metabolic processes prevent the proper synthesis of metabolites. As a result, accumulated and undegraded metabolites can destroy, impair and damage internal organs: the liver, kidneys, the nervous system, and the eye lens, and if left untreated galactosemia it can ultimately lead to death.
Galactosemia – symptoms and diagnosis
Symptoms of galactosemia they are already visible in infants, in the first days of life and breastfeeding. As breast milk contains lactose, the baby may experience vomiting, diarrhea, allergic reactions, and general deterioration in health in response to the lack of proper digestion of lactose, and may develop jaundice, drowsiness, blood clotting disorders, and enlargement of the liver and spleen in later days. A lack of weight gain in the newborn is often observed. Not recognized early enough galactosemia in the newborn, it may result in cataracts, systemic inflammation of the organism, severe organ wasting, cirrhosis and kidney failure. Galactosemia it can also damage the central nervous system.
In the case of galactosemia the newborn may also suffer from growth deficiency and intellectual and speech development disorders. Hormonal disturbances due to inappropriate synthesis of hormones in the ovaries may occur in female infants.
Recognition galactosemia is performed with the help of laboratory tests of blood and urine. The basic test is to determine the concentration of galactose-1-phosphate (GALT) uridylyltransferase (GALT), an enzyme responsible for digesting lactose, in erythrocytes. The standard of the value detected in the collected sample is not less than 3,5. If the enzyme concentration is below the value, it is diagnosed galactosemia. In order to detect galactosemia tests are also performed to measure galactose-1-phosphate in the blood – GAL-1-P; norm up to 0,3 mg / dl, and concentration measurement galactose in the blood – the norm is below 30 mg / dl. Urine tests are also performed, taking into account the measurement of galacticol concentration – the norm is up to 10 mmol / mol of creatinine.
In case of high concentration galactose in the blood (30-40 mg / dl), lactose-free milk is introduced into the diet of the newborn and the baby is subjected to observation and further screening tests. If the concentration of galactose is> 40 mg / dl, immediate hospitalization is required, the introduction of lactose-free milk and thorough tests of liver and kidney function with ultrasound, thorough blood tests for clotting and urine tests.
How to Treat Galactosemia? Life without lactose
In case of galactosemia in newborns, breast milk is replaced with lactose-free milk. However, the person is sick with galactosemia throughout his life, he must adhere to dietary restrictions that prevent the unpleasant effects of the disease, which is very dangerous for the health of the whole organism.
Diet in galactosemia requires the elimination of cow’s, goat’s and sheep’s milk in any form: raw, powdered, condensed, UHT or curdled. It is forbidden eating cheese, cottage cheese, melted cheese, yoghurt, cream, kefir, milk desserts and milk ice cream, ready-made products containing powdered milk: sweets, bars, milk chocolate. It is necessary to eliminate products containing casein, whey, lactose and milk protein hydrolyzate.
Forbidden there are also products containing a large amount galactoseand not dairy products. Large amounts galactose contain: liver, hearts, brains, pancreas and thymus, as well as products made of animal offal: pates and sausages.
Galactose it is also found in large amounts in legumes: beans, broad beans, lentils and peas, and in fruits such as grapes and figs.
Ketchup, mayonnaise, and soy sauce are also prohibited on a person’s diet galactosemia.
With this condition, it is very important to carefully read the ingredients of food products and carefully select nutrients and medications – many of them also contain milk, lactose and galactose.