In maternity hospitals, all newborns are carefully examined by staff. Children are tested for hearing, the neonatologist assesses their psycho-emotional state, on the 4th day the specialist takes blood from the heel. This is precisely what is tested for galactose in newborns.
Newborn in maternity hospital
Definition of galactosemia
To assess the danger of galactosemia, you need to understand what galactose is. Galactose is one of the sugars found in milk and some other foods. In particular, milk sugar (lactose) breaks down into galactose and glucose. Galactosemia is a hereditary metabolic disorder in the body, as a result of which the digestive organs do not produce the necessary enzymes to process galactose.
Galactosemia in newborns is a genetic disease and therefore cannot be treated. If the baby was diagnosed with this, the mother will not be able to breastfeed him, because this will lead to severe disorders in the child's body.
It should be noted! Such a baby should not be fed with either cow's milk, or goat's, or adapted milk formula. Any milk becomes fatal to the baby. This is due to the fact that galactose, accumulating in the blood, literally begins to poison the body. It causes serious damage to the central nervous system and also destroys liver cells and the lens of the eye.
The baby can develop galactosemia if the level of galactose in the blood was slightly exceeded. Since the blood of newborns began to be massively investigated no more than 20 years ago, the disease itself and its features have not yet been fully studied, especially for babies born with minor deviations.
Today, geneticists say that the mutated GALT gene, which disrupts metabolism, does not always have a negative effect on the functioning of the body. Such newborns may not have clinical manifestations of the disease and lead a normal life. Therefore, if the first screening showed an increased galactose in a newborn, this means that the child is subject to close observation and three times blood donation for analysis at a certain interval.
Probability of diagnosis
Causes
The gene responsible for the formation of an enzyme that breaks down galactose is inherited in a recessive manner. That is, one in four children of a parent who carries a gene subject to mutations will be diagnosed with galactosemia.
First signs and symptoms
If galactosemia has been diagnosed, newborn symptoms may not yet appear. Timely laboratory results can save a child's life if diet therapy is prescribed on time.
There are typical symptoms indicating that galactose may be diagnosed in a newborn:
- the simultaneous appearance of jaundice on the face and bleeding or hemorrhage on the skin;
- the occurrence of cataracts in the first year of life;
- diagnosed sepsis in a newborn;
- simultaneous detection of underweight, enlarged liver and decreased muscle tone.
Important! False negative results from neonatal screening are possible. With the help of the correct interpretation of the combination of symptoms in the first 2-3 weeks of a baby's life, the pediatrician may suspect that these are manifestations of galactosemia in newborns, such a picture should be a reason for referral for a blood test.
Mild galactosemia
A mild course of the disease is extremely rare. It is characterized by the detection of an increased amount of the enzyme responsible for the cleavage of galactose, only in peripheral blood cells. Meanwhile, in the liver and gallbladder, this enzyme remains normal. This form of the disease has no clinical manifestations, but the baby may subsequently lag behind in speech development from peers.
Moderate galactosemia
Classic galactosemia manifests itself in the first week of a baby's life. The disease is rapidly progressing and significantly threatens the child's life if diet therapy is not prescribed. Against the background of feeding with any kind of milk, symptoms such as:
- vomiting;
- diarrhea;
- muscle hypotension;
- lethargy;
- lack of weight gain;
- inactive sucking or refusal to eat;
- voluntary movement of the eyeballs.
Unfortunately, up to 30% of newborns die from a common complication - sepsis. About 75% of children who do not receive timely medical care die in infancy. The remaining 25% become disabled.
Breast refusal is a symptom of the disease
Severe galactosemia
In severe forms of the disease in a patient, in addition to the classic symptoms, a subsequent enlargement of the spleen is observed. Even in those cases when the diagnosis was carried out efficiently and in a timely manner, a delay in psychomotor development and sensorineural deafness become obvious at 2-3 years of age.
How is the diagnosis carried out?
Primary diagnosis is carried out on the 4th day in all children without exception. A nurse visits newborns in the postpartum ward. For each she has prepared forms, in which 5 windows for smears are lined. With the help of a special device called a scarifier, a puncture is instantly made on the lateral surface of the baby's heel, and smears of protruding blood are applied to the blank.
Interesting. It is not fresh blood that can be analyzed, but dried blood. Therefore, the nurse takes samples not on glass, like other tests, but on paper.
Screening for gene mutations in newborns
If an increased content of galactose is detected, blood is taken from the baby for analysis of enzyme deficiency in order to find out the activity of the GALT enzyme.
Recovery forecast and preventive measures
Before deciding to become parents, adults should know what foods contain galactose, what it is in newborns, and the importance of research that cannot be abandoned, because early detection of the disease can save the baby's life.
Late diagnosed galactosemia has a disappointing prognosis and is most often fatal. If the child was prescribed a dairy-free diet from the first days, the degree of physical development should be regularly monitored, namely:
- height;
- physical activity and acquired skills;
- features of the nervous system;
- the level of uterine development in girls after puberty.
Prevention can be considered the delivery of a blood test by future parents for the content of mutated genes in their DNA. Galactose, the norm in the blood of newborns, which is ensured by the absence of the GALT gene mutation, will not threaten life if the parents are not its carriers. The recommendation for pre-conception examination also applies to those couples in which no one suffers from a dairy intolerance.
