Protein-Bound Homocyst(e)ine in Normal Subjects and in Patients with Homocystinuria


Summary: A method was developed to quantitate protein-bound homocyst(e)ine using 2-mercaptoethanol. Protein-bound homocyst(e)ine was discovered in the plasma from normal individuals, ranging from 0.5–2.2 nmole/ml. In two obligatory heterozygotes for classical homocystinuria, plasma protein-bound homocyt(e)ine was 3.5 and 4.8 nmole/ml, respectively. Untreated homozygotes showed approximately a 40-fold increase of plasma protein-bound homocyst(e)ine. Furthermore, using conventional methods, no free homocystine was detectable in the supernatant of plasma precipitate from two classical homocystinuric patients treated with pyridoxine, but plasma protein-bound homocyst(e)ine showed a 10-fold increase. Protein-bound homocyst(e)ine was also demonstrated in the liver, kidney, and brain tissues from a patient with methylenetetrahydrofolate reductase deficiency.Speculation: The results in this study suggest that determination of proteinbound homocyst(e)ine using 2-mercaptoethanol may provide a more reliable assessment of treatment in patients with homocystinuria and a potentially useful tool for the definition of the carrier state.Demonstration of protein-bound homocyst(e)ine in various tissues of homocystinuric patients suggests the possibility that this compound may be directly associated with the development of some of the pathologic changes in the tissues

DOI: 10.1203/00006450-197910000-00012


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@article{Kang1979ProteinBoundHI, title={Protein-Bound Homocyst(e)ine in Normal Subjects and in Patients with Homocystinuria}, author={Soo-Sang Kang and Paul W. Wong and Nancy E. Becker}, journal={Pediatric Research}, year={1979}, volume={13}, pages={1141-1143} }