Abstract
An assay for cystathionine synthase in cultured fibroblasts, of high sensitivity and not rate-limited for substrate, is described. Enzymatic activity was found to be highest in controls (mean ± SEM = 20.97 ± 1.81 nmole cystathionine/mg protein/hour), intermediate in obligate heterozygotes for synthase deficiency (4.40 ± 0.92), and lowest in patients (0.77 ± 0.42), with no overlap between controls and heterozygotes. One clinically and biochemically atypical patient had a synthase activity at the low end of the heterozygote range. Thus, this method is effective for the detection of heterozygotes for cystathionine synthase deficiency.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callMore From: Biochemical and Biophysical Research Communications
Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
