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
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