Cystinuria is characterised by –
Generalised aminoaciduria
Systemic acidosis
Deposition of cystine crystals in Renal tubular cells
Recurrent urinary caliculi
Cystinuria

It is an autosomal recessive disorder.
The disease is caused by a defective high affinity transporter for L-cystine and diabasic amioacids present in the proximal tubules.
It is characterize by recurrent kidney stone formation.