Cystinuria
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
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1
Neonatal genetic sequencing as a first-tier option: a real-world clinical implementation study in Northern China.
Mu J, Sun M, Li Y, Li P, Zou H. · 2026-07-09
open access unreviewed -
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
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
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
Emerging roles of α/β hydrolase domain (ABHD) proteins in S-palmitoylation modification: molecular mechanisms, structural features, and pathological implications.
Wen X, Liu M, Quan Y, Xu Y, Xu J, Shi X. · 2026-09-01
open access unreviewed -
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
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
A Comparison of Medial and Lateral Ligament Balance in Functional Versus Simulated Mechanical Alignment in Total Knee Arthroplasty Across CPAK Phenotypes: A Single-Center Study.
Meijeren ARV, Langeloo D, van Jonbergen HP, Stevens M, Meijer MF. · 2026-09-02
open access unreviewed -
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
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.