cystinosis, n. Path.
(sɪstɪˈnəʊsɪs)
[f. cystine n. + -osis.]
An inborn error of metabolism resulting in the accumulation of cystine in the body.
| 1949 Adv. Pediatrics IV. 265 The cystinuria in cystinosis..is temporary and irregular in nature, and is never a particularly conspicuous feature of the disease. 1954 Proc. R. Soc. Med. XLVII. 882 This is a typical renal failure pattern, the presence of cystine being fully consistent with cystinosis. 1964 S. Duke-Elder Parsons' Dis. Eye (ed. 14) xvi. 219 Deposits of cystine may be associated with a generalized cystinosis, renal dwarfism and osteoporosis. 1973 Nature 3 Aug. 290/1 Hybridizing a fibroblast from a child with cystinosis with a non-cystinotic cell might elucidate the metabolism of cystine. 1983 Oxf. Textbk. Med. I. ix. 99/2 Cystinosis is not related to cystinuria; confusion has arisen in the past because the generalized amino aciduria, which is a component of the Fanconi syndrome induced by cystinosis, includes cystine and this amino acid was more easily detectable than most others before chromatographic methods became available. |
Hence cystiˈnotic a., containing excess cystine; exhibiting cystinosis.
| 1961 Lancet 21 Oct. 909/2 The demonstration of almost total lack of succinic dehydrogenase activity in fresh necropsy samples of cystinotic liver. 1978 Nature 26 Oct. 696/1 Recently fibroblasts from a cystinotic patient were partially depleted of lysosomal cystine after exposure to liposome-entrapped cysteamine. |