SULFUR AMINO-ACID-METABOLISM IN CYSTINURIA - A BIOCHEMICAL AND CLINICAL-STUDY OF PATIENTS

Sulfur amino acid metabolism was studied in 26 homozygotic cystinuric patients, some of whom received D-penicillamine, 2-mercaptopropionylglycine or N-acetylcysteine treatments in order to evaluate signs of cyst(e)ine deficiency. Decreased leukocyte glutathione and taurine levels, plasma cyst(e)ine and taurine concentrations and urinary inorganic sulfate, taurine, mercaptolactate and thiosulfate outputs were found in cystinuric patients, probably reflecting intracellular cyst(e)ine deficiency. An increased mercaptoacetate-cysteine mixed disulfide output was found, probably a result of a poor tubular reabsorption of this compound, as well as for cystine. Normal retinal function was recorded in all patients. During drug treatments, the excretion of most of the sulfur compounds in cystinurics was as those found in controls, probably reflecting an increased mobilization of cysteine. N-acetylcysteine treatment increased the excretion of cyst(e)ine and can thus not be recommended as stone preventive therapy in cystinuria.