FAVORABLE CLINICAL-NEUROLOGICAL OUTCOMES IN CHILDREN WITH PHENYLKETONURIA RECEIVING TIMELY DIETARY THERAPY

Authors

  • Gafforova Munisakhon Rustamovna 3rd-year Master’s student, Department of Neurology, Pediatric Neurology and Medical Genetics Tashkent State Medical University Tashkent, Uzbekistan
  • Sadikova Gulchehra Kabulovna Doctor of Medical Sciences, Professor Tashkent State Medical University Tashkent, Uzbekistan

DOI:

https://doi.org/10.37547/

Keywords:

clinical observation, dietary adherence, neurological development, pediatric neurology, phenylalanine control, phenylketonuria

Abstract

Uncontrolled phenylalanine metabolism threatens brain maturation, cognitive functioning, and neurological status during childhood, making timely dietary initiation a direct clinical priority. The study aimed to characterize the clinical-neurological condition of children with phenylketonuria and assess favorable outcomes associated with early dietary therapy. This observational clinical study included 25 patients aged 1–15 years. Clinical observation, a clinical case-series approach, and the chi-square test were used for analysis; mean age was M=8 years, standard deviation was SD=4.5 years, and the age range was 1–15 years. The protocol received ethics committee approval, and informed consent was obtained from the legal representatives of all children. Timely dietary therapy had been initiated in 100.0 % of participants; clinical-neurological status was favorable in 88.0 %, while 12.0 % retained signs requiring continued monitoring. Differences between categorical indicators reached statistical significance at p<0.001. The findings associate early adherence to dietary therapy with preservation of neurological functioning. The scientific contribution is the integrated description of timely dietary intervention, age distribution, and neurological outcomes within a clinically homogeneous group of children aged 1–15 years. In neurological practice, regular clinical monitoring and support for long-term adherence to therapeutic nutrition should remain priorities. Continued follow-up is needed to clarify the durability of preserved developmental indicators and to strengthen clinical interpretation of favorable outcomes in phenylketonuria.

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References

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Published

2026-09-21

How to Cite

FAVORABLE CLINICAL-NEUROLOGICAL OUTCOMES IN CHILDREN WITH PHENYLKETONURIA RECEIVING TIMELY DIETARY THERAPY. (2026). International Bulletin of Medical Sciences and Clinical Research, 6(9), 68-76. https://doi.org/10.37547/

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