Detection of heterozygotes for homocystinuria: Study of sulphur-containing amino acids in plasma and urine after L-methionine loading. Issue 7 (July 1974)

• Record Type: Journal Article
• Authors: Sardharwalla, I. B.; Fowler, B.; Robins, A. J.; Komrower, G. M.
• Is Part Of: Archives of disease in childhood. Volume 49:Issue 7(1974)
• Page Start: 553
• Page End: 559
• Publication Date: 1974-07
• Subjects: Children -- Diseases -- Periodicals; Infants -- Diseases -- Periodicals; 618.920005
• DOI: 10.1136/adc.49.7.553
• Languages: English
• ISSNs: 0003-9888

Abstract

Abstract : Twelve parents of patients with homocystinuria and 12 normal control subjects were given standard L-methionine loads. Determination of plasma concentrations of homocystine and cysteine-homocysteine disulphide, of urine concentration ratios of homocystine: cystine, cysteine-homocysteine disulphide: cystine, and homocysteic acid: cysteic acid allowed a distinction to be made between the two groups. The findings indicate the value of the L-methionine loading test for detection of heterozygotes for homocystinuria, particularly where facilities for fibroblast culture and cystathionine synthase assay are not available.