Leucinosis
Leucinosis refers to hereditary diseases associated with impaired aminic acid metabolism. The second name of this pathology is maple syrup disease, because the smell of urine in patients is very similar to the smell of this substance. With this disease, the child’s body cannot absorb some amino acids, and a specific odor in the urine is formed due to the presence of a substance that is formed from leucine.
Causes of leucinosis
This disease is caused by a decrease or complete absence of the activity of the enzyme decarboxylase alpha-keto acids in the child’s body. Therefore, amino acids are not processed, but gradually accumulate in the blood and urine of the child, which has a negative toxic effect on his condition.
Symptoms of leucinosis
The symptoms of the disease appear a few days after the birth of the child. The child refuses to feed and cries monotonously. When trying to feed the baby, vomiting or regurgitation occurs.
The main symptom of leucinosis is a specific smell of urine, which resembles the smell of burnt sugar or maple syrup.
There are several forms of the disease, with their own characteristic features:
Acute form. It manifests itself in the first days of a child’s life. Symptoms are increasing rapidly.
Intermediate form. It manifests itself from five months to seven years, in the form of short-term movement coordination disorders and a specific smell of urine. These attacks are provoked by stressful situations, violation of diet, respiratory diseases. During the period of remission in the development of the child, deviations from the norm, as a rule, are not noted.
An intermittent form. It has a wave-like course, the first symptoms are noted from the age of five months and can last up to two years. An attack can cause any stress factor for the child’s body: vaccination, colds, eating disorders. The symptoms of an attack are expressed in a violation of the coordination of movement, severe vomiting, convulsions. In the absence of timely help, the attack can flow into a coma, with a further fatal outcome. During the period of remission, the child’s condition is within normal limits.
Such children grow up with a delay in physical and psychomotor development.
Diagnosis of leucinosis
To diagnose this disease, an anamnesis analysis is carried out, collecting complaints from parents and the child’s behavior. Changes in it are evaluated. A physical examination of the child, weighing and determination of muscle tone is carried out.
Then laboratory tests are carried out to determine the presence of non-cleaved amino acids in the urine.
The blood is also examined for the presence of non-cleaved amino acids, the material is taken both from the finger and from the vein, on specialized paper. With this method, it is possible to detect an increase in amino acids in the blood in a timely manner in order to prevent the deterioration of the child’s condition.
If necessary, additional instrumental studies are prescribed to determine the general condition of the child.
Treatment of leucinosis
The main direction of therapy for this disease is to reduce the level of leucine, isoleucine and valine in the child’s blood. To do this, a special diet is prescribed, where the protein is replaced with a special medicine, with the same set of amino acids as in mother’s milk. Vitamin therapy and mineral intake are prescribed. When the child’s condition improves, when appetite appears and his muscle tone normalizes, a minimum amount of cow’s milk is introduced, as well as fruits and vegetables containing protein.
Unfortunately, even compliance with a corrective diet does not guarantee the normal psychomotor development of the child and weight gain. The general prognosis of this disease is unfavorable.
