Biochemical diagnosis of cystinosis using leukocytes.
A simple method for the biochemical diagnosis of cystinosis involves incubating leukocytes from a small volume of blood with 35S-cystine. Non-protein 35S-labelled compounds are then extracted from the leucocytes and separated by thin-layer chromatography. The excessive incorporation of 35S-cystine into the increased cystine pool of cystine cells is easily detected in autoradiographs of the chromatograms.
D001345:Autoradiography; D002855:Chromatography, Thin Layer; D003545:Cysteine; D003553:Cystine; D003554:Cystinosis / Q000097:blood* / Q000175:diagnosis; D005978:Glutathione; D006801:Humans; D007962:Leukocytes; D013462:Sulfur Radioisotopes
D013462:Sulfur Radioisotopes; D003553:Cystine; D005978:Glutathione; D003545:Cysteine