Protein‐bound plasma homocyst(e)ine and identification of heterozygotes for cystathionine‐synthase deficiency
- 31 January 1985
- journal article
- research article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 9 (1) , 25-29
- https://doi.org/10.1007/bf01813897
Abstract
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.This publication has 7 references indexed in Scilit:
- Clinical consequences of heterozygosity for autosomal-recessive diseases*,**Clinical Genetics, 2008
- Protein-Bound Homocyst(e)ine in Normal Subjects and in Patients with HomocystinuriaPediatric Research, 1979
- Detection of heterozygotes for homocystinuria: Study of sulphur-containing amino acids in plasma and urine after L-methionine loadingArchives of Disease in Childhood, 1974
- Homocystinuria due to cystathionine synthase deficiency: Enzymatic and ultrastructural studiesThe Journal of Pediatrics, 1974
- Cystathionine synthase deficiency: Heterozygote detection using cultured skin fibroblastaBiochemical and Biophysical Research Communications, 1973
- Homocystinuria: Studies in Tissue CulturePediatric Research, 1973
- Homocystinuria: Heterozygote Detection using Phytohemagglutinin-Stimulated LymphocytesJournal of Clinical Investigation, 1973