Клинический случай аргинин-янтарной ацидурии у новорожденного

Abstract

Aim. To present a clinical case of the development of arginine-succinic aciduria (AYAA) of a newborn. Key points. The main aspects of the clinical performance, diagnosis, as well as the principles of treatment of AYAA are considered. The incidence of ANA is 1 case per 70 000 newborns. The cause is a defect in the enzyme arginine succinathy lyase, accompanied by the accumulation of toxic metabolites. The authors focused on the development of clinical symptoms of the patient. Using specialized diagnostic methods — gas chromatography and tandem mass spectrometry, as well as the method of mass parallel sequencing, despite the therapy, led to death. Conclusion. This clinical case demonstrates the importance of early diagnosis of patients with congenital metabolic disorders. It should be remembered that AYAA is a congenital defect, which can be diagnosed by clinical symptoms and the use of gas chromatography, tandem mass spectrometry, and mass parallel sequencing. Keywords: arginine-succinic aciduria, tandem-mass spectrometry, mass parallel sequencing, newborn.