CLINICAL CASE: NON-KETOTIC HYPERGLYCINEMIA IN A NEWBORN
DOI:
https://doi.org/10.34689/ajx5m125Keywords:
nonketotic hyperglycinemia, glycine encephalopathy, metabolic disorder, genetic diseaseAbstract
Nonketotic hyperglycinemia is a rare hereditary metabolic disease characterized by elevated blood glycine levels. Glycine is an amino acid involved in many biological processes, and its uncontrolled increase can cause serious problems for the body. We have presented a unique clinical case of nonketotic hyperglycinemia in an infant, only 25 days old, at the Scientific Center of Pediatrics and Pediatric Surgery in Almaty. The complexity of diagnosis and treatment of this rare hereditary disease due to intractable seizures is considered. Early diagnosis and treatment may improve the prognosis for patients with nonketotic hyperglycinemia.
References
Құрбанбеков Н.Ә., Кусманова Н.Ж., Сембиева Ж.М., Алимханова Г.Н., Сулейменов М.Б. Клинический случай: некетотическая гиперглицинемия у новорожденного // Наука и Здравоохранение. 2024. Т.26. (3). С. 222-228. doi 10.34689/SH.2024.26.3.026
Kurbanbekov N.A., Kusmanova N.Zh., Sembieva Z.M., Alimkhanova G.N., Suleimenov M.B. Clinical case: non-ketotic hyperglycinemia in a newborn // Nauka i Zdravookhranenie [Science & Healthcare]. 2024, Vol.26. (3), pp. 222-228. doi 10.34689/SH.2024.26.3.026
Құрбанбеков Н.Ә., Кусманова Н.Ж., Сембиева Ж.М., Алимханова Г.Н., Сүлейменов М.Б. Клиникалық жағдай: некетотикалық гиперглицинемия жаңа туған нәрестеде // Ғылым және Денсаулық сақтау. 2024. Т.26. (3). Б. 222-228. doi 10.34689/SH.2024.26.3.026
Downloads
Published
License
Copyright (c) 2025 Рецензируемый медицинский научно-практический журнал «Наука и здравоохранение»
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.