A Clinical Case of Arginine-Succinic Aciduria in a Newborn
https://doi.org/10.31550/1727-2378-2024-23-6-93-97
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.
About the Authors
L. Yu. Popova
Orenburg State Medical University
Russian Federation
Russian Federation
6 Sovetskaya Str., Orenburg, 460014
A. A. Albakasova
Orenburg State Medical University
Russian Federation
Russian Federation
6 Sovetskaya Str., Orenburg, 460014
E. A. Zlodeeva
Orenburg State Medical University
Russian Federation
Russian Federation
6 Sovetskaya Str., Orenburg, 460014
A. M. Masagutova
Regional Children's Clinical Hospital
Russian Federation
Russian Federation
22 Garankin Str., Orenburg, 460060
N. N. Usenkova
Regional Children's Clinical Hospital
Russian Federation
Russian Federation
22 Garankin Str., Orenburg, 460060
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Review
For citations:
Popova L.Yu., Albakasova A.A., Zlodeeva E.A., Masagutova A.M., Usenkova N.N. A Clinical Case of Arginine-Succinic Aciduria in a Newborn. Title. 2024;23(6):93-97. (In Russ.) https://doi.org/10.31550/1727-2378-2024-23-6-93-97
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