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MS
SLC3A1 / SLC7A9 AR unreviewed

Cystinuria

Renal amino acid transport

Enzyme or protein defect

Dibasic amino acid transporter (COLA)

Accumulates or becomes deficient

Cystine in urine

Key features

Recurrent hexagonal cystine kidney stones

Management

Hydration, urinary alkalinisation, penicillamine/tiopronin

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

  1. 1
  2. 2
    Early proteomic and metabolic signatures of liver and eye in OAT-deficient mice.

    Puja A, Xu R, Mascari I, Ngo T, Zhang Y, Wang Q, Saravanan M, Du J. · 2026-06-29

    unreviewed
  3. 3
    Quantitative Susceptibility Mapping of Kidney Stones: An Ex Vivo MRI Phantom Study.

    Mücke LH, Laun FB, de Figueiredo Cardoso R, Flé G, Lorenz J, Fichte A, Uder M, Bayerl N, Hanspach J. · 2026-06-05

    open access unreviewed
  4. 4
    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
  5. 5
  6. 6
    Advanced Ophthalmic Drug Delivery in Homocystinuria Type CblC: A Translational Review of Ophthalmic Pathologies and Therapeutic Opportunities.

    Cuello-Rodríguez S, Sanna M, Lecoeuche I, Sarmento B, Otero-Espinar FJ, Díaz-Tomé V. · 2026-09-19

    open access unreviewed
  7. 7
    Predictive Value of D-Dimer to Albumin Ratio for Outcome in Acute Type A Aortic Dissection Patients.

    Lin A, Peng Y, Shao J, Chen L, Lin Y. · 2026-09-01

    open access unreviewed
  8. 8
  9. 9
    Preoperative Shock in Acute Type A Aortic Dissection: Multicenter Study of Mortality and Transport Time.

    Nakamura K, Akabane K, Arai S, Hirooka S, Yamashita A, Suzuki K, Kawashima T, Kim C, Uchino H, Uchida T. · 2026-02-26

    open access unreviewed
  10. 10
    Ergothioneine: Biosynthesis, Molecular Mechanisms, Physiological Function, and Role in Disease.

    Yi G, Yao D, Dong C, Tu X, Liao G, Long M, Xie Y. · 2026-09-06

    open access unreviewed

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