Cystinuria &nbs 828b19i p; &nbs 828b19i p; &nbs 828b19i p; &nbs 828b19i p; &nbs 828b19i p; &nbs 828b19i p; &nbs 828b19i p; &nbs 828b19i p; &nbs 828b19i p; &nbs 828b19i p; &nbs 828b19i p; &nbs 828b19i p; &nbs 828b19i p; &nbs 828b19i p; &nbs 828b19i p; &nbs 828b19i p; &nbs 828b19i p; &nbs 828b19i p; &nbs 828b19i p; &nbs 828b19i p; &nbs 828b19i p; &nbs 828b19i p; &nbs 828b19i p; &nbs 828b19i p; &nbs 828b19i p; &nbs 828b19i p; &nbs 828b19i p; &nbs 828b19i p; &nbs 828b19i p; &nbs 828b19i p; &nbs 828b19i p; &nbs 828b19i p; &nbs 828b19i p; &nbs 828b19i p; &nbs 828b19i p; &nbs 828b19i p; 341
General: Caused by abnormal protein metabolism; recessive or incomplete recessive.
Ocular: Pigmentary retinopathy; gyrate atrophy.
Clinical: Impaired intestinal absorption and renal tubular reabsorption of cystine, lysine, arginine, and ornithine leads to excretion of these dibasic amino acids into urine; associated with renal dwarfism, pyramidal and extrapyramidal symptoms, and deaf mutism.
Francois J. Metabolic tapetoretinal degenerations. Surv Ophthalmol 1982; 26:293-333.
Khan MY, et al. Gyrate atrophy of the choroid and retina with hyperornithinaemia, cystinuria and lysinuria. Eye 1994; 8[Pt 3]:284-287.
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