Number of the records: 1  

cystinúria

  1. Record numberd003555
    Date06.06.2025
    TypeM - MESH
    Topical termcystinúria
    See also(Later heading) moč
    UDCC12.050.351.968.419.815.885.250C12.200.777.419.815.885.250C12.950.419.815.885.250C16.320.831.885.250
    NoteAn inherited disorder due to defective reabsorption of CYSTINE and other BASIC AMINO ACIDS by the PROXIMAL RENAL TUBULES. This form of aminoaciduria is characterized by the abnormally high urinary levels of cystine; LYSINE; ARGININE; and ORNITHINE. Mutations involve the amino acid transport protein gene SLC3A1.
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Number of the records: 1  

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