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HPRT1 XR unreviewed

Lesch-Nyhan syndrome

Purine Salvage Pathway Hypoxanthine-guanine phosphoribosyltransferase

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

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Europe PMC · fetched just now · sorted by publication date

  1. 1
    Reply to the letter: Receptor-specific dopaminergic imbalance and sensory gating in Lesch-Nyhan syndrome.

    Saito Y. · 2026-07-08

    unreviewed
  2. 2
    Receptor-specific dopaminergic imbalance and sensory gating in Lesch-Nyhan syndrome.

    Nagamine T. · 2026-07-01

    unreviewed
  3. 3
    Periodic limb movements during sleep in Lesch-Nyhan syndrome.

    Saito Y, Sumitomo N, Saito T, Kimura A, Fukumizu M, Asato S, Kodama K, Matsui K. · 2026-06-12

    cited 1× unreviewed
  4. 4
    From farm to lab: gene-edited sheep transforming bone research.

    Lunde-Young R, Huggins S, Pryor JH, Westhusin ME, Muneoka K, Murphy WJ, Suva LJ, Long CR, Gaddy D. · 2026-04-11

    open access unreviewed
  5. 5
    Sustainable Xanthine-Grafted Alginate Biosensing Platform for Metabolic Disorder Diagnostics.

    Ferlazzo A, Saccullo E, Sambataro G, Bruno E, Montaño MD, Abbate V, Failla S, Pistarà V, Gulino A, Rescifina … · 2026-06-01

    open access unreviewed
  6. 6
    Lingual Dyskinesia as the Presenting Feature of Acquired Demyelinating Syndrome: A Case Report and Review of Differential Diagnoses.

    Davis B, Kaki A, Yiu EM, Macdonald-Laurs E. · 2026-04-01

    open access unreviewed
  7. 7
    Laypeople's Views on the Narrative Identity and Societal Treatment of Genetically Modified People.

    So D, Joly Y, Sladek R. · 2025-11-13

    open access unreviewed
  8. 8
    From presence to provenance: Building substantive infrastructure for China's rare disease ecosystem.

    Yang R. · 2026-05-01

    unreviewed
  9. 9
    Synergistic Ternary Carbon Composite for Enhanced Simultaneous Electrochemical Sensing of Ascorbic Acid, Dopamine, and Uric Acid.

    Weng YC, Wu CY. · 2026-05-11

    open access unreviewed
  10. 10
    Cost-effective preparation of cobalt oxide/nickel oxide composite for the efficient non-enzymatic electrochemical detection of uric acid.

    Qureshi AU, Khan H, Tahira A, Memon SB, Hayat A, Naz S, Bhatti MA, Khand AA, Tonezzer M, Vigolo B, Dawi E, Ib… · 2026-05-15

    open access unreviewed

External claims. These come from an index outside this database and are not checked against it. Treat them as leads.