CLINICAL CASE: NON-KETOTIC HYPERGLYCINEMIA IN A NEWBORN
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.
Keywords: nonketotic hyperglycinemia, glycine encephalopathy, metabolic disorder, genetic disease.
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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.2024.26.3.026Related publications:
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