CLINICAL AND NEUROLOGICAL FEATURES, COURSE, AND PROGNOSIS OF PHENYLKETONURIA IN CHILDREN IN UZBEKISTAN OVER THE PAST 10 YEARS (literature review)
Keywords:
phenylketonuria, metabolic disorders, neurological impairments, hyperaminoacidemia, dietary therapy, cognitive disorders, EEG, genetic screeningAbstract
Research Objective: To study the clinical-neurological features, course, and prognosis of phenylketonuria in children in Uzbekistan over the past 10 years, with the aim of evaluating the effectiveness of early diagnosis and therapy, as well as developing optimal approaches for neurological correction and social adaptation of patients.
Materials and Methods: From 2024 to 2027, a study will be conducted at the clinical bases of the Republican Center for "Maternal and Child Screening" and the National Children's Medical Center, involving 50 patients with phenylketonuria aged 1 month to 15 years. The research will use clinical-neurological examination, laboratory-biochemical analysis, EEG, and genealogical methods (family tree construction).
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