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Detection of heterozygotes for homocystinuria
  1. I. B. Sardharwalla,
  2. B. Fowler,
  3. A. J. Robins,
  4. G. M. Komrower

    Study of sulphur-containing amino acids in plasma and urine after L-methionine loading


    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.

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