medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLCmedgen-311Research ArticleКЛИНИЧЕСКИЕ СЛУЧАИCLINICAL CASEНаследственные нарушения обмена тетрагидробиоптерина: особенности клинических проявлений и диагностикаInborn disorders of tetrahydrobiopterin metabolism: clinical features and diagnosisПичкурН. А.PichkurN. A.pichkurnat@ukr.netОльховичН. В.Ol`khovichN. V.noemail@neicon.ruТрофимоваН. С.TrofimovaN. S.noemail@neicon.ruЦентр орфанных заболеваний, Национальная детская специализированная больница «Охматдет» МОЗ УкраиныРоссияOrphan Diseases Center, National Children’s Specialized Hospital «Okhmatdet» of Ministry of Health of UkraineRussian Federation2017200220181673641Copyright © Пичкур Н.А., Ольхович Н.В., Трофимова Н.С., 20182018Пичкур Н.А., Ольхович Н.В., Трофимова Н.С.Pichkur N.A., Ol`khovich N.V., Trofimova N.S.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/311

Описаны клинические случаи редких наследственных нейрометаболических заболеваний, обусловленных нарушением обмена тетрагидробиоптерина. Такие заболевания выявляют при проведении массового неонатального скрининга на фенилкетонурию, что связано с тем, что для некоторых из них характерно повышение уровня фенилаланина в крови или гиперфенилаланинемия. К настоящему времени разработаны методы эффективного лечения таких заболеваний, пересмотрены протоколы диагностики гиперфенилаланинемий. Проведено исследование биоптеринового профиля в крови и моче у 49 пациентов с гиперфенилаланинемией, которым был установлен диагноз фенилкетонурия . У 3 пациентов из данной группы, вопреки своевременно начатой диетотерапии с хорошо контролируемым уровнем фенилаланина в крови, сохранялись симптомы поражения центральной нервной системы и отмечалась выраженная задержка психомоторного развития. Исследование биоптеринового обмена у этих пациентов позволило выявить причину гиперфенилаланинемии, как следствие нарушения обмена тетрагидробиоптерина. Пациентам были установлены диагноз тетрагидробиоптнринптерин-дефицитных синдромов. Описаны особенности клинической картины и диагностики.

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The authors declare that there are no conflicts of interest present.