NEONATAL MANIFESTATION OF UREA CYCLE DISORDER

Background. Urea cycle disorders are a group of congenital metabolic disorders at high risk of death, the pathogenesis of their pathological changes is associated with the accumulation of ammonia and other intermediate products of protein metabolism, which have a neurotoxic effect. Description. The paper presents a clinical case of a baby with the neonatal manifestation of ornithine transcarbamylase deficiency, a disease from a group of urea cycle disorders. Two previous infants (boys) in the family died at the age of 4 and 7 days of life, respectively. Both babies were born at term in satisfactory condition with normal weight and height. In both cases, the disease developed in the same way. Their condition deteriorated on day 2 of life, and there were signs of central nervous system depression, as well as respiratory distress, followed by the gradual development of convulsive disorder and coma, the genesis of which remained unclarified. By taking into account this fact, this disease was suspected during the third pregnancy and confirmed after the birth of the baby. Conclusion. The use of a protein-free diet during the first 13 days of life, then a gradual transfer to a low-protein diet, by monitoring the blood levels of ammonia and the blood amino acid spectrum, and the administration of ammonia-binding drugs could prevent brain damage and keep the baby’s life.

urea cycle disorder, newborn infant, hyperammonemia, neonatal cramps and coma, ornithine transcarbamylase deficiency