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| Disease found: | Lesch-Nyhan Syndrome |
| Current as of: | October 8, 2024 |
| Disease Overview: | X-linked absence or deficiency of HGPRT enzyme (HPRT1 gene) disrupts the purine salvage pathway, causing hyperuricemia as some purines cannot be recycled. [more info] |
| Signs and Symptoms: | Affected boys show orange-sand urine deposits in diaper (early sign), dystonia, chorea, hypo orhypertonia (within first year of life), self-mutilation (usually in first 2 years of life), gout attacks and tophi (adolescence). Female carriers may have gout later in life but otherwise asymptomatic. [more info] |
| Diagnosis: | Suggested by high serum and urinary uric acid. Confirmed by HPRT1 genetic test. [more info] |
| Treatment: | Allopurinol reduces risk of hyperuricemia complications (e.g. gout); febuxostat is an alternative to allopurinol if needed. Other symptoms treated with supportive care. [more info] |
| Clinical Management: | Patients should work with orthopedists, physical/occupational therapists, and neurologists as needed for motor and neurological deficits. Nearly all patients require some form of restraint devices to minimize self-mutilating behavior (note: this disorder has a legal exemption to laws limitng restraint use). Medications to reduce anxiety and muscle spasticity may be beneficial. [more info] Families may benefit from support groups such as the International Lesch-Nyhan Disease Association. |
| Referral: | The Lesch-Nyhan Disease International Study Group recommends Dr. H.A. Jinnah, MD PhD, Emory University School of Medicine (Atlanta, GA), 404-727-9107; Dr. Gary E. Eddey, MD, Matheny Medical and Educational Center (Peapack, NJ), 908-234-0011. Patients are likely to need many different specialists as part of their care team.Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | Two studies are currently recruiting; one in the US and one in Turkey. |