Galactosemia

Description:

Galactosemia — a hereditary disease which cornerstone disbolism on the way of transformation of a galactose to glucose (a mutation of a structural gene responsible for synthesis of enzyme galaktozo-1-fosfaturidiltransferazy) is.

Galactosemia symptoms:

The disease is shown in the first days and weeks of life by the expressed jaundice, increase in a liver, neurologic symptomatology (spasms, a nystagmus (the involuntary movement of eyeglobes), hypotonia of muscles), vomiting; further lag in physical and psychological development is found, there is a cataract. Disease severity can vary considerably; sometimes the cataract or intolerance of milk happen the only display of a galactosemia only. One of disease options — a form to Dyuarta — proceeds asymptomatically though tendency of such persons to chronic diseases of a liver is noted.

At a laboratory research in blood the galactose which maintenance can reach 0,8 g/l is defined; special methods (chromatography) possible to find a galactose in urine. Activity of enzymes in erythrocytes is sharply reduced or is not defined, the content of enzymes is increased by 10 — 20 times in comparison with norm. In the presence of jaundice content increases of both direct (diglucuronide), and indirect (free) bilirubin. Also other biochemical signs of damage of a liver are characteristic (a hypoproteinemia, a hypoalbuminemia, positive tests on disturbance of a kolloidoustoychivost of proteins). Considerably resilience in relation to an infection decreases. Manifestation and hemorrhagic diathesis because of reduction of proteinosintetichesky function of a liver and reduction of number of thrombocytes - petechias is possible.

Galactosemia reasons:

The galactose arriving with food as a part of milk sugar — lactose, is exposed to transformation, but reaction of transformation does not come to the end in connection with hereditary defect of key enzyme.
The galactose and its derivative collect in blood and fabrics, having toxic effect on the central nervous system, a liver and lens that defines clinical displays of a disease. Galactosemia mode of inheritance autosomal and recessive.

Treatment of the Galactosemia:

At confirmation of the diagnosis transfer of the child into food with an exception, mainly, of milk is necessary. Special products are for this purpose developed: сояваль, нутрамиген, delactosed enpit. Zamenny hemotransfusions, fractional hemotransfusions, plasma injections are recommended. From medicines purpose of an orotat of potassium, ATP, cocarboxylase, a complex of vitamins is shown.
High performance of early identification of pregnant women in families of high risk and the pre-natal prevention consisting in a milk exception of a diet of pregnant women is shown.
The accounting of families of risk allows early, that is in a preclinical stage, to subject to special inspection of the newborn and at positive takes to transfer it to delactosed feeding. For early identification are offered also special screening program of mass inspection of newborns.
With age weakening of this specific disturbance of exchange is observed.