You are not alone. Here is where to start: learn the basics, find a specialist or center that sees Lesch-Nyhan syndrome, look for clinical trials, and connect with others living with it — all in one place.
Open the full Lesch-Nyhan syndrome hub →Lesch-Nyhan syndrome is a rare condition. Also known as HPRT complete deficiency, HPRT deficiency grade IV, Hypoxanthine guanine phosphoribosyltransferase complete deficiency, Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV. Tomeko brings together the specialists, research, clinical trials, treatments and community for Lesch-Nyhan syndrome so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.
Identifiers: ORPHA:510 · OMIM 300322, 308950 · ICD-10 E79.1 · GARD 0007226
Start by learning the basics from an authoritative source, find a specialist or center that sees Lesch-Nyhan syndrome, and connect with a patient organization. Tomeko brings these together on one hub.
Use Tomeko's specialist and Centers-of-Excellence directories to find clinicians who treat Lesch-Nyhan syndrome, filtered to your area.
Tomeko shows live, recruiting studies for Lesch-Nyhan syndrome from ClinicalTrials.gov on the hub.