LESCH-NYHAN SYNDROME – late diagnosis of rare disease: clinical case

LESCH-NYHAN SYNDROME – late diagnosis of rare disease: clinical case

Background. Lesch-Nyhan syndrome is inherent X-linked recessive genetic disorder with decreased activity of hypoxanthine-guanine phosphoribosyltransferase (HGPRT). The disease is characterized by presence of the classical triad: hyperuricemia, neurological and behavioral changes. In the article we p...

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Bibliographic Details
Main Authors: Oleksii Khaniukov, Valerii Chornyi, Ihor Yevstihnieiev, Ihor Hutnik, Oleksandra Smolianova, Nataliia Romuz, Kateryna Esterkina, Kateryna Pervieieva
Format: Article
Language:English
Published: V. N. Karazin Kharkiv National University 2021-02-01
Series:Journal of V. N. Karazin Kharkiv National University: Series Medicine
Subjects:
lesch-nyhan syndrome
hyperuricemia
primary gout
clinical case
Online Access:https://periodicals.karazin.ua/medicine/article/view/16891

Internet

https://periodicals.karazin.ua/medicine/article/view/16891

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