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Protein‐bound plasma homocyst(e)ine and identification of heterozygotes for cystathionine‐synthase deficiency
Author(s) -
Sartorio R.,
Carrozzo R.,
Corbo L.,
Andria G.
Publication year - 1986
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01813897
Subject(s) - homocystinuria , cystathionine beta synthase , heterozygote advantage , endocrinology , medicine , chemistry , methionine , biochemistry , amino acid , gene , genotype
We measured protein‐bound plasma homocyst(e)ine in 15 normal adult subjects and nine heterozygotes for homocystinuria due to cystathionine β‐synthase deficiency. The mean (±SD) concentrations obtained in the two groups of subjects were 4.35±1.50 and 9.16±3.40 µmoll −1 , respectively. The mean values were significantly different, although the levels of three heterozygotes overlapped those of the control range. This method allows preliminary screening of the heterozygotes for homocystinuria and can be carried out by laboratories that have only facilities for amino acid analysis.