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OMIM = Online Mendelian Inheritance of Men
Neutral and basic amino acid transport protein rBAT, b(0,+)-type amino acid transporter 1
2p21, 19q13.11
rare (1:7000)
autosomal dominant
autosomal recessive
mutation in the SLC3A1 amino acid transporter gene
mutations in the SLC7A9 gene
3 allelic types (I, II, III)
3 similar but distinct syndromes associated with cystinuria type I have been described: 2p21 deletion syndrome, Hypotonia-Cystinuria Syndrome (HCS) and atypical HCS [Martens K 2008]
Laboratory findingsL-Lysine inc (urine)
Ornithine inc (urine)
    Arginine inc (urine)
    Cysteinyl leukotrienes (LTE4) inc (urine)
    Cystine inc (urine)
Symptomsurolithiasis, nephrolithiasis, kidney stones
   infections (urinary tract)
   renal failure, acute/chronic
   renal failure, chronic
    Amino acids, urine
    onset, adolescent
    onset, adulthood
    onset, childhood
    onset, infancy
    pain, abdominal
    ultrasound, abdominal, abnormal
    unusual odor / odour
    urine crystals
    X-ray, abnormalities