Синдром на Lesch-Nyhan вследствие на нова мутация в HPRT1 гена.

Defects in the gene HPRT1, which are inherited in a Xlinked recessive pattern, lead to metabolic disorders with a wide spectrum of severity. The most severe form is LeschNyhan syndrome which manifests when residual levels of the encoded enzyme - hypoxanthine-guanine phosphoribosyl-transferase, are under 2%. It is characterized by overproduction of uric acid and as result nephrolithiasis and tophi as well as neurologic symptoms - most commonly dyskinesia, and behavioural problems, typically self-injury. When residual enzyme levels are between 2 and 8%, patients have HPRT1-related neurologic dysfunction and lack behavioural abnormalities and when those are over 8 - 10% they have HPRT1-related hyperuricemia with only elevated uric acid levels. Hereby we present the clinical case of two twin brothers with a novel mutation in the gene HPRT1 which is associated with Lesch-Nyhan syndrome. [ABSTRACT FROM AUTHOR]