title: Platelet and monocyte variables in homocystinuria due to cystathionine-beta-synthase deficiency.
abstract: To gain insight into the mechanisms responsible for enhanced thromboxane (TX) A2 biosynthesis in homozygous homocystinuria due to cystathionine-beta-synthase deficiency (CBSD), we measured a series of platelet and monocyte variables in 9 homozygous and 8 obligate heterozygous CBSD patients and evaluated their relationships to thromboxane formation, as reflected by urinary excretion of its major metabolite, 11-dehydro-TXB2 (TXM). Consistent with our previous data, homozygous CBSD patients showed abnormally high TXM excretion (1175 +/- 236 pg/mg creatinine vs. 284 +/- 39 in control subjects; p < 0.001). Significantly higher TXM excretion was also found in obligate heterozygotes (755 +/- 450 pg/mg creatinine; p < 0.05 vs. control subjects). All platelet and monocyte variables fell within the normal range in CBSD patients and none showed a correlation with TXM excretion (p always > 0.05). Our results argue against abnormalities of platelet and monocyte function being responsible for the abnormally high in vivo TXA2 biosynthesis in homocystinuria due to CBSD.
authors.affiliation: Department of Clinical and Experimental Medicine, University of Naples, Federico, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Coppola
authors.forename: R
authors.initials: R
authors.lastname: Albisinni
authors.forename: P
authors.initials: P
authors.lastname: Madonna
authors.forename: A
authors.initials: A
authors.lastname: Pagano
authors.forename: A M
authors.initials: AM
authors.lastname: Cerbone
authors.forename: G
authors.initials: G
authors.lastname: Di Minno
mesh_terms: D000293:Adolescent; D000328:Adult; D001792:Blood Platelets / Q000473:pathology*; D003541:Cystathionine beta-Synthase / Q000172:deficiency*; D005260:Female; D006712:Homocystinuria / Q000097:blood* / Q000473:pathology; D006801:Humans; D008297:Male; D009000:Monocytes / Q000473:pathology*
chemical_list: D003541:Cystathionine beta-Synthase