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[A case report of pyridoxine-responsive homocystinuria].
Med Pregl
May 2000
Institut medicinskih sluzbi, Zavod za biohemiju, Medicinski fakultet, Novi Sad.
Introduction: Homocystinuria is a rare, congenital, autosomal-recessive, metabolic disease biochemically characterized by homocysteinemia and homocystinuria and by multi-system clinical disorders. It is a biochemical abnormality of methionine metabolism caused either by transulfuration pathway disorders or by disorders of homocysteine remethilation into methionine and as such it can be a result of numerous specific and different genetic lesions.
Case Report: Homocystinuria is most commonly caused by deficiency of cystationine beta synthetase enzyme which catalyses the synthesis of cystathionine from homocysteine and serine in the methinione pathway.
A modified cyanide-nitroprusside method for quantifying urinary cystine concentration that corrects for creatinine interference.
Clin Chim Acta
November 1999
Department of Biochemistry & Molecular Biology, and Kidney Stone Program, Department of Medicine, University of Chicago, Chicago, IL 60637, USA.
Cystinuria, an inherited disease, is clinically diagnosed by detecting cystine in urine. A colorimetric method using sodium cyanide and sodium nitroprusside is a simple qualitative test used to detect cystinuria. Several colorimetric methods have been proposed for quantitative analysis of cystine; however, we found that none of them were satisfactory because the results were not reproducible.
View Article and Find Full Text PDFPilot screening programme for cystinuria in the Valencian community.
Eur J Epidemiol
August 1999
Departamento de Biopatología Clínica, Hospital Universitario La Fe, Valencia, Spain.
Cystinuria is an autosomal recessive disorder of the kidneys and small intestine, affecting a luminal transport mechanism shared by cystine, ornithine, arginine and lysine. When cystine exceeds its solubility at low pH, the risk of stone formation increases. The data reported in the literature show a variation for the incidence of cystinuria, from 1 in 600 to 1 in 17,000, depending on the definition of cystinuria and the method used for screening the population.
View Article and Find Full Text PDFTwo hereditary disorders of sulfur amino acid metabolism, beta-mercaptolactate-cysteine disulfideuria and sulfite oxidase deficiency, were described twenty years ago. Other examples of these disorders have been limited to about 5 of each in the world literature since then. Reasons for the apparent rarity of these conditions are discussed and the analytical procedures to identify them are reviewed.
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