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.
Number of Views: 188
Bibliography link
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:
EPIDEMIOLOGY, RESOURCE DISTRIBUTION, AND MANAGEMENT CHALLENGES OF CHRONIC HEART FAILURE IN KAZAKHSTAN: A NATIONAL RETROSPECTIVE ANALYSIS
PREVALENCE OF POLYMORPHISMS IN WARFARIN METABOLISM-RELATED GENES AMONG THE KAZAKH POPULATION
NEUROLOGICAL COMPLICATIONS IN EXTRACORPOREAL MEMBRANE OXYGENATION: RISK FACTORS FOR THE DEVELOPMENT OF ACUTE CEREBROVASCULAR EVENTS
THE EFFECT OF REPAGLINIDE AND METFORMIN ON EXTERNAL RESPIRATORY FUNCTION IN PATIENTS WITH DIABETES AND ISCHEMIC HEART DISEASE ASSOCIATED WITH OBESITY
RETROSPECTIVE ANALYSIS OF PATIENTS WITH OBLITERATING ATHEROSCLEROSIS OF THE LOWER EXTREMITY ARTERIES IN THE ABAI REGION OF THE REPUBLIC OF KAZAKHSTAN