Many parents are worried about why their newborn babies often spit up, refuse to feed, and are capricious. Sometimes, in such cases, doctors diagnose the baby with galactosemia. What it is? How serious is this disease? What causes it? How to treat him? 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 the mutation of the gene responsible for this. Galactosemia in children is very rare. So, for 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 exhaustion. After the milk food was canceled, the galactosemia, the symptoms of which brought a lot of anxiety to the baby, disappeared.
Causes of the disease
The main cause of galactosemia is a gene mutation. 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 in themselves 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 ailment, the conversion of galactose to glucose does not occur completely. Residues accumulate in the tissues of organs and in the blood. This is very harmful because they have a toxic effect on 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 ailment, intolerance to dairy and sour-milk products, damage to the kidneys, eyes and liver, severe exhaustion, up to anorexia, delayed mental and motor development are noted.
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 illness
Symptoms of galactosemia appear after the baby tries the mixture or breast milk.
This degree of ailment is most often characteristic of infants weighing more than 5 kg and signs of jaundice in newborns. Also, such children have a decrease in blood sugar and cramps. The baby spits abundantly after each feeding. His stool is watery, and hemorrhages form on the skin due to a deficiency of coagulation factors.
When the baby reaches the age of 2 months, symptoms such as bilateral cataract, renal 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 development retardation are added to the previously described symptoms.
With this degree of galactosemia, the child develops severe hepatic and renal failure, infections join and severe exhaustion is observed. In this case, if the diagnosis of the disease is not done on time, then a fatal outcome is possible.
What are the symptoms of a moderate ailment?
As a rule, in this situation, the newborn has vomiting after feeding or using the mixture. The pediatrician visually and by ultrasound can diagnose liver enlargement. Jaundice and anemia in the baby are also noted. Other signs of moderate severity of galactosemia include cataracts and delayed motor and mental development.
Of course, in this case, the symptoms are much easier. But, no matter how severe the disease, it must be detected and treated. Otherwise, serious complications with the baby's health are possible.
Mild 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.
Also, with a mild degree of galactosemia, there is a lesion of the central nervous system, digestive upset and cataract.
The main symptoms of this form of the disease include the baby’s refusal to breast, despite the fact that he is hungry, small in weight and height. They are joined by vomiting after taking milk and a delay in speech development. Because of all this, with untimely treatment, chronic liver diseases are formed.
What can be the complications?
In the absence of therapy, serious consequences of galactosemia are possible:
- Sepsis. This type of complication is observed in infants. Very dangerous death.
- Oligophrenia.
- Ovarian Depletion Syndrome.
- Cirrhosis of the liver.
- Primary amenorrhea.
- Motor alalia.
- Vitreous hemorrhage of the eye.
These complications can be avoided if, if a disease is suspected, immediately consult a specialist and get the right treatment. Remember, the baby’s health is in your own hands.
How is the diagnosis carried out?
In order not to have severe consequences of the disease, an analysis of galactosemia should be taken. It is possible to diagnose the disease when the fetus is still in the womb. In this case, an amniotic fluid test is taken or a chorionic biopsy is performed.
Screening for the disease is done absolutely for all newborns. So, it is carried out to full-term children on the fourth day, and to premature - on tenths. For analysis, capillary blood is taken, which is applied to the filter paper. The analysis is delivered as a dry spot to the genetic laboratory.
If suddenly, as a result of screening, suspicions of galactosemia syndrome appear, then a repeated diagnosis is carried out to confirm or refute the diagnosis. If the result is positive, the analysis should show a high level of galactose or a minimum 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, the baby takes a blood test after it is loaded with glucose.
Newborns with a confirmed diagnosis undergo eye biomicroscopy, electroencephalography, puncture biopsy of the liver and ultrasound of the abdominal cavity. To determine the degree of damage to the internal organs, a general and biochemical analysis of blood and urine is taken. If the initial diagnosis is confirmed, you should seek the advice of such specialists as a geneticist, pediatric ophthalmologist and neurologist.
There is another disease that has similar symptoms. It is called phenylketonuria. Galactosemia has one key difference from it, namely that it is inherited, that is, it is congenital. With phenylketonuria, the baby is born healthy. Also, galactosemia should be distinguished from diseases such as hepatitis and cystic fibrosis, hemolytic jaundice of newborns 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 consists in the proper diet of the baby. Dairy products are excluded from a child’s diet for life.
Newborns who are breast-fed 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, Nutricia. Specialized mixtures are introduced gradually. At the same time, the amount of breast milk is reduced each time. As soon as the baby is ready for the introduction of complementary foods, you must also be careful. The child should not be given legumes or foods that contain milk.
Children with congenital galactosemia can juices, mashed fruits and vegetables, egg yolk, fish, vegetable oil. It is strictly forbidden to eat milk porridge, cottage cheese, dairy products and butter.
Children who are one year old also need to adhere to the above diet. In addition, those suffering from galactosemia should exclude from the diet foods that contain galactose: spinach, cocoa and nuts, beans, beans, lentils. Some foods of animal origin are also contraindicated: liverwurst, liver and pate.
Treatment of the disease with medication
We answered the question, galactosemia, what it is. It must be treated not only with 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 potassium orotate preparation are prescribed. Calcium preparations are also prescribed, since the child’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 coagulation factors, an exchange blood transfusion is made.
Forecasts
In the case when the disease is diagnosed in the first stages, the treatment is carried out correctly and the diet is strictly adhered to, the development of complications such as cataracts, cirrhosis of the liver and oligophrenia can be avoided. If the 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 with a confirmed diagnosis receives a disability group. He has also been registered all his life with such specialists as a geneticist, pediatrician, neurologist, and optometrist.
Is it possible to avoid the disease?
Answering the question, galactosemia, what is it, we explained that this is a rather rare disease, which, like other ailments, needs preventive measures. They consist in early diagnosis and in assessing the likelihood of the appearance of galactosemia in the baby.
To do this, identify families in which there is a high risk of this ailment. For newborns, screening is carried out even in the hospital. This is done in order to subsequently avoid complications. When a disease is detected, an early transfer to artificial feeding is carried out. For families where there are patients with this disease, conduct genetic counseling.
Pregnant women who are at risk should limit themselves in the use of dairy and sour-milk products.
Remember: early diagnosis, treatment started on time, proper diet, and diet will ensure your child's health and a good future.