Lesch-Nyhan syndrome
Enzyme or protein defect
Hypoxanthine-guanine phosphoribosyltransferase
Accumulates or becomes deficient
Uric acid
Key features
Hyperuricaemia, gout, orange sand in nappies, self-mutilation, choreoathetosis, intellectual disability
Management
Allopurinol; behavioural protection
Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.
Recent literature
Europe PMC · fetched just now · sorted by publication date
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1
Small populations, big impact: leveraging rare disease gene therapies to benefit millions.
Cherqui S. · 2026-10-01
open access unreviewed -
2
Research Review: Emotion regulation in individuals with intellectual disability - an integrative review.
Ferguson EF, Nuske HJ, Hardan AY, Gross JJ. · 2026-06-03
unreviewed -
3
Causal association between sleep disorders and nephrolithiasis: a two-sample Mendelian randomization study.
Huang L, Fan L, Wang S, Liu H, Zeng Q, Sun G. · 2026-04-23
cited 1× open access unreviewed -
4
Genetic Etiologies of Dystonia with Anarthria/Aphonia.
Ménétrey A, Rayco E, Abarghouei ME, Fox SH, Lang AE, Ibrahim GM, Gorodetsky C, Ganos C. · 2026-09-30
open access unreviewed -
5
Multi-omics integration of proteomics and metabolomics in pediatric health and disease.
Matusa AM, Tweddell D, Daley M, O'Gorman DB, Fraser DD. · 2026-09-28
open access unreviewed -
6
Redox-Active Polyindole-Modified Electrode for Electrochemical Uric Acid Determination.
Zeb A, Bilal S, Begum B, Shah AUHA, Röse P. · 2026-09-02
open access unreviewed -
7
Lesch-Nyhan Syndrome Complicated by Bilateral Ureteral Calculi and Acute Kidney Injury.
Pınar NÇ, Özlü SG, Gökçe AÖ, Tağcı S, Bayrakçi US. · 2026-09-13
unreviewed -
8
ABCG2 transporter: Structural and functional associations with gout (Review).
Asif MA, Zulfiqar Z, Mustafa BE, Nazir U, Sun J, Wang Z, Cui Y, Hao S, Boshuai L, Shi Y. · 2026-07-03
open access unreviewed -
9
Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients.
Bergès C, Sauvestre C, Naudion S, Delorme CV, Smol T, Rama M, Moortgat S, Maystadt I, Kersseboom R, Wilke M, … · 2026-06-05
cited 3× open access unreviewed -
10
A guanosine metabolism-bioenergetics intersection drives Parkinson’s disease
· 2026-08-10
open access unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.