Ngwaahịa

Achọpụtara mmụgharị abụọ na mkpụrụ ndụ cystathionine beta-synthase (CBS) na ụmụnne abụọ ndị Japan nwere pyridoxine na-anabataghị homocystinuria nke nwere ọkwa methionine dị iche iche n'ọbara ha n'oge nwa ọhụrụ.Ndị ọrịa abụọ ahụ bụ heterozygotes na-emepụta ihe nke abụọ mutant alleles: otu nwere mgbanwe A-to-G na nucleotide 194 (A194 G) nke mere ka a dochie anya histidine-na-arginine na ọnọdụ 65 nke protein (H65R), ebe nke ọzọ nwere G-to-A mgbanwe na nucleotide 346 (G346A) nke mere ka a glycine-na-arginine dochie anya na ọnọdụ 116 nke protein (G116R).E gosipụtara protein mutant abụọ ahụ iche iche na Escherichia coli, ha enweghịkwa ọrụ catalytic kpamkpam.N'agbanyeghị genotypes ha yiri ya na ihe fọrọ nke nta ka ọ bụrụ nri protein hà nhata, ụmụnne ndị a gosipụtara ọkwa dị iche iche nke methionine ọbara n'oge nwa ọhụrụ, na-atụ aro na ọkwa nke methionine dị n'ọbara na-ekpebi ọ bụghị nanị site na ntụpọ dị na mkpụrụ ndụ CBS na protein oriri, kamakwa site na. ọrụ nke enzymes ndị ọzọ na-etinye aka na methionine na homocysteine ​​​​metabolism, karịsịa n'oge nwa ọhụrụ.Ya mere, ụmụ amụrụ ọhụrụ nwere nnukwu ihe ize ndụ nke nwere ụmụnne nwere homocystinuria, ọ bụrụgodị na ọkwa nke methionine dị n'ọbara ha bụ ihe dị mma na nyocha nke nwa ọhụrụ, ekwesịrị ịgbaso ma chọpụta ya site na nyocha nke ọrụ enzyme ma ọ bụ nyocha mkpụrụ ndụ ihe nketa ka ọgwụgwọ wee nwee ike ịmalite. malitere ozugbo enwere ike igbochi mmepe nke mgbaàmà ụlọ ọgwụ.Na mgbakwunye, a ga-emepụta ụzọ ọhụrụ, nke nwere mmetụta karịa maka nyocha oke nke ụkọ CBS na ụmụ ọhụrụ.