GalactosemiaGALACTOSEMIA is an inherited disorder, which is based on metabolic block to the conversion of galactose into glucose. Etiology, pathogenesis. Galactose from food in the composition of milk sugar - lactose, undergoes phosphorylation, and is formed of galactose-1-phosphate; its further transformation when the disease does not occur due to an inherited defect of the key enzyme of galactose-1-phosphate uridyltransferase. Galactose, galactose-1-phosphate accumulates in the blood and tissues, exerting a toxic effect on the Central nervous system, the liver, the lens that determines the clinical manifestations of the disease. The type of inheritance galactosemia autosomal recessive. The clinical picture. The disease manifests itself in the first days and weeks of life marked by jaundice, enlarged liver, neurological symptoms (convulsions, nystagmus, hypotonia of the muscles), vomiting; later found to be retarded physical and neuro-psychological development, there is a cataract. The severity of the disease can significantly vary; sometimes the only manifestation galactosemia are only a cataract or intolerance to milk. One of the variants of the disease is a form of Duarte - asymptomatic, although a tendency for such individuals to chronic liver disease. In a laboratory study in the blood is determined by galactose, the contents of which can reach 0.8 g/l; special methods (chromatography) detect galactose in the urine. The activity of galactose-1-phosphate uridyltransferase in erythrocytes sharply reduced or is not specified, the contents of galactose-1-phosphate increased 10-20 times compared to the norm. In the presence of jaundice increases the content as a direct (diglucuronide) and indirect (free) bilirubin. Characteristic and other biochemical signs of liver damage (hypoproteinemia, hypoalbuminemia, a positive test for a violation of kaleidoscopically proteins). Significantly decreases resistance against infection. Diagnosis. Positive samples for sugar and detection of galactose in the urine in the first days of life, as well as its level in the blood more than 0.2 g/l require special examination of a child for galactosemia. There are special fluorometrically, spectrophotometric and radiometric methods for determining the activity of galactose-1-phosphate-uridyl-transferase, which run in a centralized biochemical laboratories. The differential diagnosis is carried out usually with diabetes. Treatment. Upon confirmation of the diagnosis requires the removal of the child on the diet with the exception mainly of breast milk. For this special products: seawall, nutramigen, lactose free inpit. Recommended exchange transfusion, fractional blood transfusion, infusion of plasma. Of drugs shown by appointment orotata potassium, ATP, cocarboxylase, complex of vitamins. The forecast. Severe fatal in the first months of life, during the protracted period of the first plan can be phenomena of chronic liver failure or CNS damage. Prevention. The high efficiency of early detection of pregnant women in high-risk families and antenatal prophylaxis, consisting in the exclusion of milk from the diet of pregnant women. Accounting risk families allows early, i.e. in the pre-clinical stage, subjected to a special examination of the newborn and in case of positive results translate it into lactose-free feeding. For early detection also proposed a special screening program for mass newborn screening..

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