Human Cystinosis: Intracellular Deposition of Cystine

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Science  15 May 1970:
Vol. 168, Issue 3933, pp. 859-860
DOI: 10.1126/science.168.3933.859


Membrane-limited inclusions were found in the cytoplasm of cells of the rectal mucosa, leukocytes, and cultured fibroblasts from two humans with cystinosis. Most of the inclusions contained amorphous material, presumably cystine. In cells of the rectal mucosa the material appeared frequently crystallized. This was rarely seen in leukocytes, and never in cultured fibroblasts. The fact that acid phosphatase could be demonstrated consistently in the organelles responsible for sequestration of cystine indicates that they are lysosomes.

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