Galactosemia symptoms in newborns. Galactosemia

Galactosemia of newborns - every 60,000th child leaves the maternity hospital with this diagnosis, and every 200 may be a carrier of the disease. World statistics speak about this. Of course, they are distributed unevenly around the globe; each country has its own situation. And within countries, indicators are also heterogeneous. So, for example, in Russia, on average, 1 child out of 20-30 thousand is sick, in the USA - 1 out of 30-190 thousand, in Europe - 1 out of 18-180 thousand. Such figures suggest that this disease is not so common. What is it and what do parents need to know? Read on.

About the disease: what it is, causes

Galactosemia is a disorder of carbohydrate metabolism in terms of the conversion of galactose (simple sugar) into glucose.

Normally, lactose that enters the newborn’s body with mother’s milk or formula breaks down into glucose and galactose. The latter is then also converted into glucose during fermentation.

With galactosemia, galactose is not completely broken down, and harmful half-life products begin to accumulate in the body, which, in turn, leads to damage to organs and functional systems due to exposure to toxic substances. Vision, hearing, digestive organs and the central nervous system are especially affected. In severe cases and in advanced cases, death is likely.

The cause of the disease lies in a mutation of the gene responsible for processing galactose. But the disease will manifest itself only if the child has inherited copies of this gene from both parents (that is, it cannot manifest itself if only the mother or father is sick). Then the production of the corresponding enzymes fails, and galactose metabolism is disrupted with all the ensuing consequences.

Those who inherited only one copy of the “wrong” gene are carriers of the disease. Some may have mild symptoms that can be easily managed with a special diet.

Thus, it is a congenital disease and there is no cure. If any difficulties with processing galactose occur at a later age, the reasons for this are different, and they have nothing to do with this disease, even with similar symptoms.

Types of disease

Galactosemia is classified according to two parameters: lack of a specific enzyme (1 of 3) and severity.

According to enzyme deficiency there are:

Classic version, when there is not enough (absent) galactose-1-phosphate uridyl transferase. Symptoms are expressed even in mild cases, but in severe cases, death is very likely.
Duarte variant. The synthesis of galactokinase is impaired. A relatively mild form of the disease, which can be determined during screening in the maternity hospital. If screening was not carried out for some reason, indirect signs confirming the diagnosis include developing cataracts, slight mental retardation, and mild neurological symptoms.
Option "Los Angeles". A mild degree occurs without any symptoms; in a severe case, the clinical picture is the same as in the classic version. Also signs of the disease are damage to the hearing organs. A detailed diagnosis is needed, as there are asymptomatic forms. If the disease is detected on time, there is a chance to avoid most of the negative consequences.

Galactosemia has 3 degrees of severity:

Mild - its main symptoms are early breast refusal and milk intolerance.
Moderate – its symptoms appear immediately after feeding the baby (diarrhea, vomiting and, as a result, weight loss). Sometimes there is an enlargement of the liver.
Severe - with it, in addition to the signs mentioned above, the following may occur: accumulation of fluid in the peritoneum, rapid development of cataracts, kidney damage, sepsis.

Recipe for the occasion::

This degree is the most dangerous because it is associated with a fatal risk for the body.

Diagnostics

As with other diseases, it is extremely important to detect it as early as possible. Nowadays, even intrauterine diagnosis of galactosemia is possible. In Russia, there are rules according to which screening for genetic diseases is carried out in the first days of babies’ lives. Capillary blood is taken, applied to paper, dried and sent for genetic analysis. If galactosemia is suspected as a result, a repeat test is performed. If the test results are confirmed, the child is given a final diagnosis. All necessary information is transmitted to the local doctor, and the parents and the baby are sent to a geneticist for consultation. It analyzes hereditary factors, performs genetic research to determine the gene that has mutated, and also provides detailed information about the diet that the baby now needs to adhere to.

It may also be necessary to determine the concentration of galactose in urine and perform stress tests. Tracking the results of blood and urine tests makes it possible to draw a conclusion about the condition of the internal organs. In addition, when the diagnosis is confirmed, children usually need:

consultation with an ophthalmologist;
consultation with a neurologist;
EEG (study of brain activity by recording electrical impulses);
ultrasound examination of the abdominal organs;
monitoring the condition of the visual organs.

It is important not to confuse galactosemia with other diseases with similar manifestations. For example, with hemolytic disease, inflammatory liver diseases, type 1 diabetes and others.

Symptoms

Manifestations of galactosemia vary depending on its form and severity. In a mild form it is:

loose stools;
frequent regurgitation;
child's refusal to eat.

This form, in appearance, resembles lactose intolerance, but requires a much more serious attitude.

The main symptoms in moderate and severe cases are similar to signs of liver pathology.

Symptoms for severe cases are:

diarrhea;
enlargement of the spleen and (or) liver;
the liver becomes denser;
jaundice: first the whites of the eyes turn yellow, then the face and body, and lastly yellowing of the palms, feet and armpits is observed;
convulsions;
involuntary movement of the eyeballs;
decreased muscle tone;
cataract;
general slowdown in development;
increased bleeding;
hemorrhagic rash.

anemia;
lack of glucose, total protein;
galactose concentration exceeds 0.8 g/l;
increased bilirubin levels;
increased levels of liver enzymes;
decreased activity of the enzyme that converts galactose into glucose.

the appearance of sugar and (or) protein;
excess galactose.

How to treat. Nutrition

Treatment in infants begins with the exclusion of products containing lactose and galactose (this applies to both infant formula and breast milk). Together with the doctor, a dairy-free formula is selected. At the same time, treatment is carried out for those organs and systems that have been affected by toxins. Prescribed:

antioxidants;
vitamins;
liver protection drugs;
calcium preparations;
drugs for correcting metabolism, inhibiting toxic effects. Blood transfusions are done for the same purpose.

As already mentioned, for galactosemia, a diet is prescribed. And it will need to be observed constantly. It should be understood that the presence of dairy foods on the menu in infants can provoke serious consequences, for example, sepsis or cirrhosis of the liver. This is dangerous for the life of a newborn!

What products will be prohibited:

flour;
sweet (with sucrose);
anything containing cocoa;
nuts;
legumes, soybeans;
sausages;
spinach;
eggs;
offal;
any dairy products.

Interestingly, mild forms of the disease will not require strict dietary restrictions for life, but adding something new to the diet will need to be done slowly, with mandatory monitoring of laboratory parameters.

Reducing the amount of galactose in the menu while taking medications allows you to stop the development of the disease and avoid unpleasant consequences.

Prevention

There is no prevention as such, there is only intrauterine diagnosis of the fetus. For those who have a family history of galactosemia, it is best to consult a geneticist while expecting a baby. If the disease is detected, the woman will need to follow a diet throughout pregnancy, excluding all forbidden foods from the diet.

In addition, newborn screening is crucial: if sick children are immediately introduced to the correct diet and diet, irreversible consequences can be avoided. Otherwise, within a month the work of internal organs will malfunction.

Having heard such a diagnosis, do not lose heart and do not give up: galactosemia is not a death sentence; with the right approach, your child has every chance to live a long and happy life. Early diagnosis, diet and treatment are the main components of success.

Galactosemia in children is a hereditary disease in which the processes of carbohydrate metabolism are disrupted in the body. This pathology (occurs 1 time in 10,000 - 50,000 newborns) can be suspected in infants who flatly refuse breast milk and artificial milk formulas. Due to the increasing incidence of galactosemia, all newborn children undergo mandatory screening. Subsequently, an additional examination is prescribed - hardware and laboratory diagnostics.

Galactosemia is a pathology characterized by certain symptoms:

refusal of breast milk;
intolerance to formula milk;
vomiting reflex ();
disruption of the bowel movement (diarrhea);
lethargy;
intoxication of the body;
abundant release of gases;
hemorrhages appear on the skin.

Symptoms by stage of the disease

All primary symptoms should be taken into account, as they are harbingers of dangerous complications, for example, cirrhosis of the liver, ascites, etc.

Causes

Galactosemia develops due to congenital pathology. Poor heredity (2 copies of the defective gene were received from each parent). Against the background of enzyme deficiency (GALE, GALT or GALK), the concentration of glucose in the child’s blood rapidly increases. As a result of the accumulation of galactose metabolites (intermediate) toxins, vital organs and systems are affected:

organs of vision;
central nervous system;
organs of the gastrointestinal tract, etc.

Galactose enters the child's body along with food that contains lactose. In this category of patients, it does not turn into glucose, which is why this substance begins to accumulate in the blood and soft tissues. A large accumulation of galactose leads to poisoning of the body with toxins and the development of dangerous pathologies.

Diagnostics

Primary diagnosis is carried out on newborns right in the maternity hospital. After some time, the children are sent for further examination, during which they will have to undergo various tests. When carrying out laboratory diagnostics, the level of galactose is determined in biological materials of patients. It is mandatory for children to undergo stress tests with glucose and galactose. Diagnostics includes not only testing, but also genetic testing and hardware diagnostics:

ultrasound examination of the gastrointestinal tract;
eye biomicroscopy;
liver biopsy (puncture), etc.

If women want to detect pathology at the earliest stage, they can undergo prenatal diagnosis.

Normally, a blood test in children should have the following indicators:

Specialists conduct studies (in red blood cells) of GA-1-FUT and GA-1-F for young children, with the help of which galactosemia can be diagnosed with maximum accuracy:

Ga-1-P reaches 400 mg/ml;
Ha-1-FOOT is below the norm (10 times).

When carrying out diagnostic measures, specialists must differentiate galactosemia from the following diseases:

diabetes mellitus (insulin dependent) ();
atresia (congenital) of the bile ducts;
cystic fibrosis.

Treatment

Therapy for this pathology begins with transferring the child to a diet. Parents should exclude all foods that are harmful to them from their baby’s daily diet. Those patients with galactosemia should be provided with special mixtures. Gradually, other products will be introduced into their diet:

juices (berry and fruit) – from 4 months;
ground fruits – from 4.5 months;
grated vegetables – from 5 months;
porridge (corn, rice and buckwheat) - from 5.5 months;
meat products in the form of complementary foods (beef, turkey, chicken, rabbit) - from 6 months;
Sick children can obtain the required amount of carbohydrates from fructose-based products.

To improve metabolism, doctors prescribe potassium orotate, ATP, Cocarboxylase and multivitamins to a sick child. It is prohibited to take tinctures of alcohol as therapy: alcohol in any form is contraindicated for this category of patients. Homeopathic medicines should not be given to children as they contain lactose.

Conservative therapy

Patients who have been diagnosed with galactosemia are often on maintenance drug therapy. Experts prescribe the following medications:

calcium;
medications for blood vessels;
hepatoprotectors;
antioxidants.

If a child has severe liver damage due to the disease, he will be prescribed a replacement or exchange blood transfusion. Doctors do not include homeopathic medications and medications containing alcohol in the treatment course.

How to live with galactosemia

Children diagnosed with this genetic disease must carefully monitor their diet throughout their lives. Even a slight deviation from the diet can lead to the development of cirrhosis of the liver and partial or complete loss of vision - cataracts.

If a newborn baby is diagnosed with this in the maternity hospital, breast milk should be immediately excluded from his diet. Pediatricians recommend for this category of patients mixtures containing galactose split into casein: Enfamil O'lac or Nutramigen. Complementary foods should be introduced very carefully, observing a certain interval - each new product after two weeks (citrus fruits should not be given until one is a year old, and fish can be carefully introduced after 9 months).

After each innovation, you need to undergo a laboratory examination (donate blood). It is imperative that such children receive the required amount of vitamin D.

It is prohibited to consume the following products throughout your life:

cheeses;
sour cream;
cottage cheese;
milk;
beans, soy;
bakery and confectionery products;
margarines;
sausages;
baking;
eggs;
liver, kidneys, etc.

Important! Children with galactosemia can be vaccinated only from 6 months. Every quarter, parents must go to a medical facility and have their children’s eyes checked and have their blood tested.

Forecast

Many parents are frightened by the prognosis of galactosemia, which includes the possibility of developing life-threatening diseases and disability. Serious complications can be avoided if symptoms are identified in a timely manner and treatment, which should begin from the first days of the birth of a sick baby. In the case when therapy is started in the later stages of the disease, doctors use rational diet therapy, which will slow down the progression of galactosemia. Once it reaches a severe stage, the disease can be fatal.

While undergoing lifelong dispensary treatment, children should be under constant supervision by the following specialists:

pediatricians;
geneticists;
neurologists;
ophthalmologists;
nutritionists.

As a rule, all children who have been diagnosed with galactosemia are assigned a disability group.

Prevention

To prevent or minimize the birth of patients with galactosemia, it is important to carry out preventive measures in a timely manner. Specialists are tasked with identifying families with poor heredity, screening newborns, and transferring them to a special diet that excludes dairy products from the very first days. It is mandatory for doctors to conduct conversations with pregnant women, the purpose of which is to teach nutritional rules.

Conclusion

Every woman, especially at risk of giving birth to a child with this pathology, should take preventive measures, which boil down to limiting the consumption of dairy products. If galactosemia is detected in newborns after childbirth, mothers need to transfer them to artificial feeding, which will contain special formulas. If parents delay in examining and treating their baby, he may end up with a disability.

Galactosemia is a rare hereditary disease caused by a metabolic disorder in which the carbohydrate metabolism of galactose occurs abnormally. Galactosemia should not be confused with lactose intolerance. These two diseases are in no way related to each other. Galactosemia is inherited genetically, in an autosomal recessive manner, and occurs due to insufficient activity of the enzyme responsible for the complete absorption of galactose by the body.

This disease was first described in 1917, and already in 1956 the main cause of the disease was identified - a disorder of galactose metabolism.

Galactosemia in newborns occurs in approximately 1 case out of 15-20 thousand. A very rare disease that can sometimes be found in Japan and much more often among Irish nomads (or Irish gypsies), due to inbreeding within a relatively small gene pool.

Causes of galactosemia

Today, it is reliable that galactosemia occurs as a result of a congenital defect of certain genes. These genes are responsible for the secretion of enzymes that convert galactose, which enters the body with food, into glucose, the main nutrient for the myocardium and brain cells.

In galactosemia, galactose derivatives accumulate in the cells of the nervous system, internal organs and the lens of the eye, exerting a toxic effect on them. With this disease, frequent severe bacterial infections are possible, caused by excess galactose and suppression of white blood cell function.

Symptoms of galactosemia

There are three types of galactosemia, which have similar symptoms: classic, Duarte variant and negro variant. The most common is classic galactosemia.

The first symptoms of galactosemia in a child appear a couple of days after birth. They arise against the background of feeding dairy foods and manifest themselves as vomiting and stool disorders in the form of watery diarrhea. The baby is bothered by intestinal colic and bloating, jaundice and excessive gas production appear.

In the absence of timely diagnosis of galactosemia in newborns, the liver increases in size and damage to the nervous system develops - decreased muscle tone, convulsions.

Gradually, the symptoms of galactosemia manifest themselves in a pronounced lag in mental and physical development, and clouding of the lens (cataract) may be observed. The main problem is cirrhosis of the liver, which, in the absence of adequate treatment, is the main cause of death.

It should also be noted that in some forms of galactosemia, symptoms do not appear immediately. For a long time, children may only experience intolerance to dairy products, manifested by cramping abdominal pain, as well as periodic diarrhea and vomiting. Duarte's galactosemia generally refers to an asymptomatic form, which has no obvious clinical expression, but it is a predisposing factor to various liver diseases.

The main complications of galactosemia are cirrhosis of the liver, bacterial sepsis, vitreous hemorrhage and lens opacification, premature ovarian failure.

Diagnosis of galactosemia in newborns

In order to reduce the risk of complications, it is very important to diagnose galactosemia as early as possible. Today, in many maternity hospitals, all newborns are required to be tested for galactosemia (screening). Parents should be wary if the following symptoms of galactosemia occur: after starting breast milk or formula feeding, the child develops diarrhea and vomiting, the mucous membranes and skin (primarily the sclera of the eyes) turn yellow. Also, the presence of the disease may be indicated by excessive discharge of gas and bloating of the tummy, retardation in mental and physical development, and slow growth of the child. If there is even the slightest suspicion, you should urgently consult a pediatrician and get tested for galactosemia.

Laboratory methods for diagnosing galactosemia are reduced mainly to detecting increased levels of galactose in the urine and blood. It helps to establish the correct diagnosis by performing a D-xylose absorption test and loading tests with galactose and glucose. Undoubted confirmation of the presence of galactosemia in a patient is genetic testing, thanks to which doctors identify the mutant gene responsible for the development of the disease.

Nonspecific laboratory tests for galactosemia include a biochemical blood test and a general urine test. These methods make it possible to determine how the disease progresses and the extent of damage to internal organs. For the same purposes, instrumental diagnostic methods are widely used (electroencephalography, studying the lens of the eye using a slit lamp, ultrasound of the abdominal organs, puncture biopsy of the liver).

Treatment of galactosemia

The main criterion for successful treatment of galactosemia is its early diagnosis. Treatment is very long and is carried out by therapists and pediatricians on an outpatient basis.

The basis of treatment is a lactose-free diet. Today, you can buy special nutritional formulas without milk sugar in a wide range of products. The diet expands as the child grows older. New foods are introduced into the diet with extreme caution. A lactose-restricted diet is followed until the child is five years old, after which partial compensation for enzyme malfunction is possible. If galactosemia in a newborn is extremely severe and causes various complications, the diet is followed for life. At the same time, almost all products containing starch, lactose and sucrose are excluded from the diet. In this case, products containing fructose become an alternative source of carbohydrates.

Drug treatment of galactosemia is usually symptomatic and is aimed at improving metabolic processes in the body, as well as eliminating dysfunction of damaged organs. For this purpose, medications that improve metabolism are prescribed. If you have galactosemia, you should not take any medications without first consulting your doctor.

To prevent galactosemia, given its hereditary nature, future parents are recommended to undergo genetic counseling. This is especially true for parents who already have one child with galactosemia. In addition, genetic counseling is recommended for all close relatives of childbearing age.

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It is extremely rare, affecting 1 in 40-60 thousand children. It is for infants that this genetic disease poses the greatest danger. It is important to diagnose it before the first clinical manifestations occur.

The essence of galactosemia in newborns

The disease is caused by a gene mutation and is manifested by metabolic disorders, in particular, a violation of the conversion of galactose to glucose. Galactosemia develops rapidly, and if it is not detected in the first days after the birth of the baby, then symptoms appear after 2-4 weeks.

If galactosemia occurs, the newborn needs immediate medical attention.

Galactose is an important substance for the normal functioning of the brain and internal organs, but its excessive concentration in the body (galactosemia) leads to intoxication. Since galactose is an integral part of lactose, against the background of galactosemia, another fermentopathy appears - lactase deficiency in infants. This is the inability to break down milk sugar and, as a result, intolerance to milk, including breast milk.

Inheritance type

The disease is hereditary and is transmitted in an autosomal recessive manner. In order for a baby to get sick, he must inherit 2 defective genes - one each from his mother and father. If one mutated gene is transmitted, then the baby becomes a carrier, and his heirs will be in danger.

Galactosemia does not necessarily appear in children of sick parents. It is enough for dad or mom to be carriers.

Symptoms of the disease

The first clinical manifestations are not long in coming, since the baby begins to receive breast milk immediately after birth. They are noticeable already in the first week of the baby’s life, usually on days 5-7. Early symptoms include:

vomiting or regurgitation after feeding;
breast refusal;
weakness, lethargy or, conversely, overexcitation;
diarrhea;
physiological jaundice.

Later, swelling of the face and limbs becomes noticeable, ascites develops, that is, fluid accumulates in the abdominal cavity. The baby's body temperature rises and convulsions may occur.

With galactosemia in newborns, the central nervous system, liver, spleen, kidneys, intestines and organs of vision are primarily affected.

Symptoms may be mild, moderate or severe. The further prognosis largely depends on the severity of the disease. With rapid development, there is a high probability of complications in the first months of life. But being asymptomatic can also be dangerous.

The consequence of metabolic disorders can be brain damage, neurological disorders, cataracts, enlarged liver and spleen, cirrhosis, and renal failure. There is a high probability of partial or complete loss of vision and mental retardation. The child lags behind his peers in development and has problems with speech and intellectual abilities.

Severe forms of galactosemia are fatal in the first months of life, as vital organs and systems are affected.

Diagnostics

The basis of diagnosis is neonatal screening, which is carried out in the maternity hospital on the 4th-5th day of the baby’s life. It is also called the heel test because blood is taken from the heel for analysis. With its help, you can detect not only galactosemia, but also 4 more incurable genetic diseases:

cystic fibrosis is a disease manifested by damage to the exocrine glands, in which the functioning of vital internal organs is disrupted;
phenylketonuria - a disease characterized by problems with the breakdown of the amino acid phenylalanine;
congenital hypothyroidism - endocrine pathology;
adrenogenital syndrome is a disease manifested by dysfunction of the adrenal cortex.

In contrast to these pathologies, there is a genetic disease, the symptoms of which appear closer to puberty. This is Klinefelter's syndrome. But this chromosomal abnormality can be identified and its complications can be prevented using prenatal diagnosis.

If galactosemia is detected based on the results of neonatal screening, parents are immediately notified and an additional examination is prescribed, which involves:

blood and urine tests to determine lactose levels;
genetic research - a defective gene is identified;
biochemical blood test - the general condition of the baby is assessed.

Based on the results of a plasma examination, an increase in the level of lactose, galactose, indirect bilirubin, and a decrease in protein fractions are detected. A deficiency of the following enzymes may also be detected:

GALT - galactose-1-phosphate uridyl transferase;
GALK - galactokinase;
GALE - uridine diphosphate-galactose-4-epimerase.

If necessary, an ultrasound of the internal organs is performed, and the lenses of the eyes are examined to detect clouding. Not only a geneticist is involved in the diagnosis, but also an ophthalmologist, neurologist, hepatologist, and nephrologist.

If galactosemia can be detected before the initial signs appear, complications can be avoided.

Treatment

Despite the fact that galactosemia cannot be treated, medical care is necessary for the child. If treatment is not timely, the baby may die from serious health problems or from bacterial sepsis, which often develops against the background of this genetic disease. The sooner treatment is started, the greater the likelihood of remission of the disease. Therapy involves a dairy-free diet and the use of drugs to improve metabolism.

Breast milk with galactosemia is harmful to the newborn

The following clinical recommendations are required to be followed:

refusal of breastfeeding;
refusal of any dairy products for life.

You can feed the baby with soy formula, almond milk is allowed. This is the only permitted food for a newborn.

Diet is the key to the baby’s normal well-being. It must be observed throughout life. Any products containing even a small amount of milk are prohibited. This applies to semi-finished products, baked goods, sausages, margarine and others. You need to be extremely careful when choosing food for your child.

You can make up for the deficiency of nutrients with other foods, for example, vegetables, fruits, meat, fish. Parents should visit a nutritionist who will talk about proper nutrition.

For speech disorders, sessions with a speech therapist are important; neurological disorders are corrected with medication.

Prevention

Galactosemia is very dangerous because it cannot be treated. A child can be born sick even to seemingly healthy parents, since carriage of the defective gene does not manifest itself in any way. To protect the baby from severe heredity, it is worth taking preventive measures at the planning stage or in the early stages of pregnancy.

Prevention involves undergoing genetic testing by both parents. If, according to the results of the study, there is a risk of galactosemia in the child, the mother should strictly adhere to a dairy-free diet. Any dairy products are excluded from the diet. This increases the baby's chances of a normal life.

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A high level of the carbohydrate galactose in the blood is caused by a deficiency of galactose-1-phosphate uridyl transferase, one of the enzymes necessary for the metabolism of galactose. This is a hereditary, congenital disease.

Without this enzyme, 1 in 50,000 to 70,000 babies are born. The type of inheritance is autosomal recessive.

Symptoms of galactosemia

At first, the newborn appears healthy, but within a few days or weeks he loses his appetite, vomits and jaundice occurs, and normal development stops. The liver enlarges, protein and amino acids appear in the urine, tissues swell, and the body retains water. If treatment is started late, children remain short and mentally retarded. Many patients develop cataracts.

The severity of the disease varies significantly; sometimes the only manifestation of galactosemia is cataracts or milk intolerance. One of the variants of the disease - the Duarte form - is asymptomatic, although a tendency of such individuals to chronic liver diseases has been noted.

A laboratory test determines galactose in the blood, the content of which can reach 0.8 g/l; Using special methods (chromatography) it is possible to detect galactose in urine. The activity of enzymes in erythrocytes is sharply reduced or not determined, the content of enzymes is increased by 10-20 times compared to the norm. In the presence of jaundice, the content of both direct (diglucuronide) and indirect (free) bilirubin increases. Other biochemical signs of liver damage are also characteristic (hypoproteinemia, hypoalbuminemia, positive tests for impaired colloid stability of proteins). Resistance to infection is significantly reduced. Hemorrhagic diathesis may also occur due to a decrease in the protein synthetic function of the liver and a decrease in the number of platelets - petechiae.

Causes of galactosemia

Galactose, supplied with food as part of milk sugar - lactose, undergoes transformation, but the transformation reaction is not completed due to hereditary
defect of a key enzyme.

Normally, milk sugar (lactose) supplied with food is broken down in the body into glucose and galactose (the main nutrient substrate for brain and myocardial cells), the latter is then also converted into glucose under the action of the enzyme galactose-1-phosphate uridyltransferase.

If the gene encoding this enzyme is defective, the latter is not produced in the body. Consequently, galactose cannot be converted into glucose and accumulates in the blood and tissues of the patient, exerting a toxic effect on the central nervous system, liver and lens of the eye, which determines the clinical manifestations of the disease.

Severe forms end in death in the first months of life; with a prolonged course, the phenomena of chronic liver failure or damage to the central nervous system may come to the fore.

Diagnosis of galactosemia

Galactosemia is suspected if galactose and galactose-1-phosphate are detected in the urine. The diagnosis is confirmed if galactose-1-phosphate uridyl transferase is absent in liver cells and blood. If a doctor or parents suspect galactosemia in a child, since there are known cases of this disease in the family, it can be diagnosed immediately after birth based on a blood test.

Since 2006, the newborn screening program has also included testing for galactosemia. In this case, on the 4th-5th day of life, a few drops of blood are taken from the child, in which the level of galactose is determined. If it exceeds the norm, galactosemia can be suspected. The analysis is carried out on all newborns. Differential diagnosis is usually made with diabetes mellitus.

Treatment of galactosemia

The high effectiveness of early detection of pregnant women in high-risk families and intrauterine prevention, which consists of excluding milk from the diet of pregnant women, has been shown. If galactose is high in the mother's blood, it can pass to the fetus and cause cataract formation.

Milk and dairy products, a source of galactose, should be completely excluded from the diet of a sick child. Galactose is found in some fruits, vegetables and seafood such as seaweed; They are also not recommended for use. However, whether small amounts of these products cause long-term damage is unknown. Patients with galactosemia should limit their galactose intake throughout their lives.

It is possible to use drugs that improve metabolism (potassium orotate, multivitamins). Considering the metabolic disorders present in the body during galactosemia, all medications should be used only after consultation with a doctor!

With proper treatment of galactosemia, mental retardation, as a rule, does not develop. However, these children have a lower IQ than their siblings and often have speech impairments. In girls, ovulation is disrupted during puberty and in subsequent years, and natural conception is usually impossible.

There is no specific prevention of galactosemia. Given the hereditary nature of the pathology, it is recommended that parents who have a child with galactosemia undergo genetic counseling if they are planning subsequent pregnancies. Genetic counseling is also indicated for all close relatives of childbearing age.

The article used materials from the Medical Directory of Diseases for Doctors and Patients

Important! Treatment is carried out only under the supervision of a doctor. Self-diagnosis and self-medication are unacceptable!