Lesch-Nyhan Syndrome
aka: Hypoxanthine Phosphoribosyltransferase 1 Deficiency, X-Linked Hyperuricemia
Pathogenesis
Hypoxanthine Phosphoribosyltransferase 1 deficiency results in failure of purine recycling – purines breakdown but do not get recycled – which results in high levels of uric acid.
Clinical
- Neurological manifestations: Dystonia, Chorea, Ballismus, Gait Abnormalities, Neuropsychiatric manifestations (Self-injury (biting, head banging).
- Systemic manifestations: Gout, Uric aciduria (kidney stones)
Genetics
- HPRT 1 gene mutation
- X-linked, recessive (nearly exclusively in males)
References
- Calvo, Sherri; Collins, Heather; Greenberg, Kathleen, et. al at US National Library of Medicine, Genetics Home Reference. https://ghr.nlm.nih.gov