Genetic diseases



galactosemia photo Galactosemia - a disease with a rare disease that infants inherit from their parents.And they have a certain anomaly in an autosomal recessive gene, are its carriers.This vrozhdёnnost expressed malfunction in metabolism as a result of the structure of a specific mutation of the gene that is responsible for the connection process of the enzyme galactose-1-phosphate.And this is the testimony of its low rate or no blood.Newborns, which appear with a genetic disease, according to statistics, one out of 70,000 babies have a certain number of departures, applies to them, and mental retardation.

Galactosaemia reasons

At the moment, scientists have studied the causes of galactosemia and all that is seen at the genetic level.If a healthy body when consuming foods containing lactose, the process of its digestion on carbohydrates occur without complications and normal, then suffering from galactosemia opposite.They suffer from a dysfunction of this enzyme.As a result, in the human bod

y accumulates many toxins which are capable of disrupting vital organs.From this disease and develop diseases such as kidney failure, affects the ovaries, brain, liver cirrhosis, and cataracts.

Mainly significant changes taking place in certain genes that control the process and the formation of certain enzymes.Because only they break down carbohydrates: galactose and glucose, which are so necessary for the body to supply the cells.From this we can conclude that the only reason for galactosemia is pathologically modified galactose-1-fosfaturidiltransferaza.The gene which is responsible for the correct function of the enzyme, while mutation gives rise to various types of the disease.These include species such as the Negro type of disease, Duart and classic.

Galactosaemia symptoms

Numerous clinical signs say about the defeat of many tissues.Galactosemia symptoms manifest themselves almost immediately, from the first days of life.The first sign of galactosemia are disorders of the gastrointestinal tract.The result is uncontrollable vomiting, which eventually leads to malnutrition.Very often this disease affects the blood-forming organ - liver.And it shows some signs of galactosemia, namely jaundice (changes in direct and indirect bilirubin), a significant increase in the consistency and seal liver, hemorrhagic syndrome.And this is reflected in the decrease of prothrombin complex.

the part of the authorities of changes begins with the development of cataracts, which can not be determined without the aid of an ophthalmoscope.Then lesion affecting tubules and appear in the urine components reducing sugar, which lead to proteinuria and giperaminoatsidurii.

CNS together with the defeat of a delay in psychomotor development, which becomes apparent after some time after the onset of the disease.All of these clinical manifestations are different and differentiated.Theoretically, they can be grouped into three clinical pictures.

One of the first, the most dangerous to human life and is characterized by early signs, that is, from birth to 28 days of life.During this period, the doctors observed jaundice, disorders of the gastrointestinal tract, liver enlargement and hemorrhagic syndrome.It can connect to other infections, but these signs appearing on the 4-5 day of life should be a signal for diagnosis - galactosemia.

second picture does not have the sharp symptoms of this genetic disease.Therefore, diagnosis is only a few months later with a full confirmation of cirrhosis of the liver.

And the last picture makes it possible to establish the diagnosis of galactosemia obliterated form when during the examination of the patient will be identified or isolated cataracts detected lag in mental and physical development.

Nevertheless, an important point for the conclusion of the diagnosis is to study the history of the family, all the symptoms, conducting tests for galactose, to detect an enzyme deficiency.Also galactosuria assays may suggest galactosemia.The exceptions are those moments when physiological galactosuria determined on the first days of life as well as in patients with a diagnosis - liver cell failure, regardless of cause.

Galactosaemia neonates

Sometimes galactosemia in newborns do not pay attention, taking pathological jaundice, a symptom of galactosemia, for physiological.But from the first days of life, when the activity of the enzyme in red blood cells practically determine all the symptoms of the disease progressing.

Newborn galactosemia occurs in a very severe form, so after breastfeeds, once violations occur in the body in the form of diarrhea and vomiting.As a result, with the increase in developing exsicosis and toxemia, and grudnichki quickly begin to lose weight.This leads to the development of malnutrition children.

have a child born with galactosemia, immediately after birth is observed strongly expressed and persistent jaundice, accompanied by a significant increase in liver.Then, you may receive with all the signs and liver failure.From the second or third month of life in these children may develop ascites, splenomegaly and vascular collaterals.

Some newborns with signs of galactosemia, because of poor blood clotting appear on the mucous membranes and skin hemorrhages different.Also, almost immediately in such children is determined by the gap psychomotor development, which with age become more pronounced.

For part of the view from the first days of the child's life can diagnose cataracts in both eyes and the defeat of the lens.In the terminal phase, galactosemia cachexia observed, adding a secondary infection of the plan and all the signs of a severe form of liver failure.

Clinical signs of the disease may not be so pronounced.There are some forms of the disease in which symptoms appear separately.This may or milk intolerance, or cataracts, or mental retardation.But if so the newborn is not provided in time to qualified medical assistance, death can occur due to sepsis, which often accompanies the disease.

Galactosaemia diagnosis

Since the disease galactosemia put mostly newborns, then it is diagnosed during the screening.This is a special method for determining active any congenital disease.

Diagnosis can be done in any clinic with children's section, perinatal center or nursing home where conduct such a survey on genetic pathology.

screening or testing for galactosemia is carried out in a study of blood tests.To this end, the heel of a newborn is taken a few drops of blood.And only then do a urine test for galactosemia.Then, in a study looking at these materials there are three enzymes which should cleave lactose carbohydrates (glucose and galactose).If the study was not detected any of the three enzymes, that these children are diagnosed - galactosemia.And they determined in blood and in urine increased rate galactose.

Today, there are two well-known screening test - a test and Butler Hill.And not so long ago there was another new screening - test FL.All of them with a certain accuracy can diagnose the presence of galactosemia.It is important to know that the survey should be made with great precision.After all, many healthy children who consume large quantities of milk, blood will be elevated levels of galactose, but it is absolutely not connected with galactosemia.Therefore it is impossible to make a mistake in diagnosis.
Besides the newborn in about a week galactose will be printed in the urine, but in premature infants, this process will last much longer.For a proper diagnosis, doctors may also take a biopsy of the liver material while doing tests on enzymes.

Sometimes a pregnant woman, who examined the gene galactosemia and not aware of his presence, it is recommended to make a puncture of amniotic fluid.

Another method of diagnosis of this disease is to inhibit the growth of bacteria.This method of investigation involves taking blood from a finger or the umbilical cord of the newborn on a special filter paper.A negative diagnosis for galactosemia analysis will show the absence of bacterial growth.
to quantify the galactose is taken for analysis of blood serum and urine.With the positive course of the disease the concentration of carbohydrates in the blood can rise up to 11.25 mmol / l.This analysis is important to determine the patient's diet.
Already today there are modern methods of diagnosis in the form of special tests that measure the amount of enzymes in red blood cells.Such research could not only identify insufficient enzyme, but also to identify carriers of the gene altered.


galactosemia galactosemia Treatment begins with the appointment of a diet sick.To this should be strictly excluded from the diet all those foods which contain lactose and galactosides located in the visceral organs of animals.

infants transferred to artificial feeding.In this case, use different types of diets.For example, a synthetic diet which includes giperprotidin, olive oil or corn oil, sucrose, maltrineks, carrot soup in the water with vitamins, minerals and iron.Or a diet that is based on milk replacers.In this case, start lure newborn milk, prepared from soybeans.It may already be in liquid form and ready for use.Such milk contains quite everything necessary for child development, because a growing body must get enough of calcium.And when it is insufficient, if needed, prescribe medical calcium.Milk synthetic preparation, which contains lactose, a higher percentage of calories and identical industrial milk.This type of milk does not contain enough vitamins, especially B group, so they must be replaced.But lactose, on the contrary, has a high rate.Among the food products for the treatment of infants with galactosemia appoint such mixtures as enpit, nutramigen or soyaval.

In the future, to diversify the table food, gradually introduced into the diet, green vegetables, meat, flour and all without galactose.Opinions of doctors differ somewhat on the issue of the duration of diets.Some recommend to terminate it in the child's life 8-10 years, while others insist on consistency.
Thus, a diet - it is the only option for reducing toxic accumulation of enzyme processes in the body of the patient.This applies to the classical form of hereditary galactosemia.A failure in the lactose-UDP-4-epimerase using low-calorie diet, which allows the contents of a small amount of galactose in food products, but constantly monitoring its level in the blood.

the treatment of galactosemia is important to pay attention to the drugs that may be lactose intolerant.Do not use alcohol tinctures and slowing down the process of removing galactose from the liver.

for medical reasons, in severe cases, galactosemia, prescribe a blood transfusion, blood transfusion is performed partial and pour in the plasma.Among the drugs for the treatment can be assigned
Orotate potassium ATP kokarboksilazu, B vitamins
make timely diagnosis and initiation of treatment with the correct diet, gives children the opportunity to develop normally.

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