Many parents are concerned about why their newborn babies often spit up, refuse to feed, act up. Sometimes in such cases, doctors diagnose the baby with galactosemia. What it is? How serious is this disease? What caused it? How to treat it? In our article, we will try to answer all these questions.
Galactosemia - what is it?
This disease is characterized by a violation of the normal process of carbohydrate metabolism. It is based on the lack of conversion of galactose to glucose due to a mutation of the gene responsible for this. Galactosemia in children is very rare. So, in 50,000 cases, there is only one with this diagnosis. Due to the fact that the child's body cannot utilize galactose, the nervous, visual and digestive systems are affected.
The disease was first diagnosed and described in 1908. The child suffered from severe malnutrition. After we canceled milk nutrition, galactosemia, the symptoms of which caused a lot of anxiety for the baby, disappeared.
Causes of disease
The main cause of galactosemia is geneticmutation. This disease refers to congenital diseases with an autosomal recessive type of inheritance. Thus, galactosemia in newborns appears when the baby inherits two copies of the mutated gene from the father and mother.
People who have this defect can suffer from this disease, which occurs in both severe and mild forms. Galactose enters the human body together with milk sugar, which is contained in food. In those who suffer from this disease, the conversion of galactose into glucose is incomplete. Residues accumulate in the tissues of organs and in the blood. This is very harmful because they are toxic to the liver, the lens of the eye and the nervous system.
Galactosemia: symptoms in newborns
There are three types of disease: classic, Negro and "Duarte". The latter is characterized by the absence of any signs.
Basically, with this disease, there is intolerance to dairy and sour-milk products, damage to the kidneys, eyes and liver, severe exhaustion, up to anorexia, mental and motor retardation.
Signs of the disease appear almost immediately after the birth of the baby. In many ways, the symptoms depend on the nature of the course of the disease.
Signs of severe disease
Galactosemia symptoms appear after the baby has tried formula or breast milk.
This degree of illness is most often characteristic ofinfants weighing more than 5 kg and signs of neonatal jaundice. Also, these children experience a decrease in blood sugar levels and seizures. The baby burps profusely after each feeding. His stools are watery, and due to a deficiency of blood clotting factors, hemorrhages form on the skin.
When the baby reaches the age of 2 months, symptoms such as bilateral cataracts, kidney failure and malnutrition due to the child's refusal to eat are added.
At the age of 3 months (in the absence of proper treatment), cirrhosis of the liver, hepatosplenomegaly, ascites and mental and motor retardation are added to the previously described signs.
At this degree of galactosemia, the child develops severe liver and kidney failure, infections and severe malnutrition. In this case, if the diagnosis of the disease is not carried out on time, then a fatal outcome is possible.
What are the symptoms of moderate disease?
As a rule, in this situation, the newborn vomits after feeding or drinking formula. The pediatrician visually and according to the results of ultrasound can diagnose an enlarged liver. There is also jaundice and anemia in the baby. Other signs of moderate galactosemia include cataracts and delayed motor and mental development.
Of course, in this case, the symptoms are much better. But, whatever the severity of the disease, it must be detected and treated. Otherwise, serious complications with the he alth of the baby are possible.
Easydegree of galactosemia
This form of the disease can occur without any symptoms. You can find out about its presence by passing tests for the necessary enzymes.
Mild galactosemia can also cause damage to the central nervous system, indigestion and cataracts.
The main symptoms of this form of the disease include the refusal of the baby to breastfeed, despite the fact that he is hungry, a small set in weight and height. They are joined by vomiting after taking milk and delayed speech development. Because of all this, with untimely treatment, chronic liver diseases are formed.
What are the complications?
Galactosemia can have serious consequences if left untreated:
- Sepsis. This type of complication is observed in infants. Very lethal.
- Oligophrenia.
- Ovary Wasting Syndrome.
- Cirrhosis of the liver.
- Primary amenorrhea.
- Motor alalia.
- Vitreous haemorrhage of the eye.
These complications can be avoided if, if you suspect a disease, you immediately contact a specialist and get the right treatment. Remember, the he alth of the baby's body is in your own hands.
How is the diagnosis made?
In order to avoid severe consequences of the disease, you should be tested for galactosemia. It is possible to diagnose the disease when the fetus is still in the womb. In this case, an analysis of the amniotic fluid is taken or a chorionic biopsy is performed.
Screening for the disease is done for absolutely all newborns. So, for full-term babies, it is carried out on the fourth day, and for premature babies - on the tenth. For analysis, capillary blood is taken, which is applied to filter paper. The analysis is delivered to the genetic laboratory in the form of a dry spot.
If suddenly as a result of screening there are suspicions of galactosemia syndrome, then a second diagnosis is carried out to confirm or refute the diagnosis. If positive, the test should show a high level of galactose or a minimal level of the enzyme that breaks it down.
There are other diagnostic methods. So, sometimes in a medical institution, specialists collect urine in order to examine the level of galactose in it. In addition, a blood test is taken from the baby after he is loaded with glucose.
Newborns with a confirmed diagnosis undergo biomicroscopy of the eye, electroencephalography, puncture liver biopsy and ultrasound of the abdominal cavity. To determine the degree of damage to internal organs, a general and biochemical analysis of blood and urine is taken. If the initial diagnosis is confirmed, consultation with specialists such as a geneticist, pediatric ophthalmologist and neurologist should be sought.
There is another disease that has similar symptoms. It's called phenylketonuria. Galactosemia has one key difference from it, which is that it is inherited, that is, it is congenital. With phenylketonuria, the baby is born he althy. Alsogalactosemia should be distinguished from diseases such as hepatitis and cystic fibrosis, hemolytic jaundice of the newborn, and diabetes mellitus.
What are the nutritional characteristics of children with this diagnosis?
In galactosemia, symptoms in newborns that are confirmed by test results require careful treatment. The latter is the proper dietary nutrition of the baby. Dairy products are excluded from the child's diet for life.
Newborns who are breastfed are transferred to artificial. There are mixtures that contain only synthetic amino acids or soy protein isolate. These include products from Nutritek, Humana, Mid Johnson, and Nutricia. Specialized mixtures are introduced gradually. At the same time, the amount of breast milk is reduced each time. As soon as the baby becomes ready for the introduction of complementary foods, you also need to be careful. The child should not be given legumes and products that contain milk.
Children with congenital galactosemia can drink juices, fruit and vegetable puree, egg yolk, fish, vegetable oil. It is strictly forbidden to consume milk porridge, cottage cheese, sour-milk products and butter.
Children who are one year old also need to follow the above diet. In addition, those suffering from galactosemia should exclude foods that contain galactose from the diet: spinach, cocoa and nuts, beans, beans, lentils. Some foods of animal origin are also contraindicated: liverwurst, liver andpate.
Treating a disease with medication
We answered the question, galactosemia, what is it. It is necessary to treat it not only with a diet, but also with medications. Depending on the severity of the disease, babies may be prescribed a number of medications that perform a supportive function.
To improve metabolic processes, vitamins and the drug "Potassium Orotate" are prescribed. Calcium preparations are also prescribed, since the children's body lacks this trace element due to the fact that there are no dairy products in the baby's diet. In addition, antioxidants, vascular drugs and hepatoprotectors are prescribed. In cases where the liver is not able to synthesize blood clotting factors, exchange blood transfusion is done.
Forecasts
In the case when the disease is diagnosed at the first stages, the treatment is carried out correctly and the diet is strictly observed, it is possible to avoid the development of complications such as cataracts, liver cirrhosis and oligophrenia. If therapy is started late, after the defeat of the central nervous system, then the goal of treatment will only be to slow down the development of the disease. Unfortunately, severe degrees of galactosemia can be fatal.
A child who has a confirmed diagnosis receives a disability group. He has also been registered all his life with such specialists as a geneticist, pediatrician, neurologist, ophthalmologist.
Is it possible to avoid the disease?
Answering the question, galactosemia, what is it, we explained what it isa fairly rare disease that, like other ailments, needs preventive measures. They consist in early diagnosis and in assessing the likelihood of a baby developing galactosemia.
To do this, identify families in which there is a high risk of this disease. Newborns are screened at the maternity hospital. This is done in order to avoid complications later. If a disease is detected, an early transfer to artificial feeding is made. For families where there are patients with this disease, they conduct medical genetic counseling.
Pregnant women who are at risk should limit their intake of dairy and sour-milk products.
Remember: early diagnosis, timely treatment, the right diet, adherence to a diet will ensure your child's he alth and a good future.
