Alaabta

Laba isbeddel oo ku jira hidda-wadaha cystathionine beta-synthase (CBS) ayaa laga helay laba walaalo ah oo Jabbaan ah oo leh pyridoxine homocystinuria aan jawaab celin lahayn kuwaas oo lahaan jiray heerar methionine oo kala duwan dhiigooda xilliga dhalmada.Labada bukaanba waxay ahaayeen heterozygotes isku dhafan oo ah laba alleles oo mutant ah: mid wuxuu lahaa u-guurka A-G ee nucleotide 194 (A194 G) taas oo keentay beddelka histidine-to-arginine booska 65 ee borotiinka (H65R), halka kan kalena uu lahaa G-to-A ee nucleotide 346 (G346A) taas oo keentay beddelka glycine-to-arginine ee booska 116 ee borotiinka (G116R).Labada borotiin ee mutant waxaa si gaar ah loogu muujiyay Escherichia coli, waxayna gabi ahaanba ka maqan yihiin firfircoonida kicinta.In kasta oo ay genotypes isku mid ah iyo qaadashada borotiinka la siman yahay, walaalahani waxay muujiyeen heerar kala duwan oo methionine ah oo dhiigga ah inta lagu jiro xilliga dhalmada, iyagoo soo jeedinaya in heerka methionine ee dhiigga lagu go'aamiyo ma aha oo kaliya cilladda hidda-wadaha CBS iyo qaadashada borotiinka, laakiin sidoo kale firfircoonida enzymes kale ee ku lug leh methionine iyo dheef-shiid kiimikaadka homocysteine ​​​​, gaar ahaan xilliga dhalmada.Sidaa darteed, dhallaanka khatarta sare leh ee leh walaalo qaba homocystinuria, xitaa haddii heerka methionine ee dhiiggooda uu caadi yahay baaritaanka tirada dhallaanka, waa in lagu daba-galiyaa oo lagu ogaadaa baaritaanka enzyme-ka ama falanqaynta hidda-socodka si daaweyntu u noqon karto. bilaabay sida ugu dhakhsaha badan si looga hortago horumarinta calaamadaha kiliinikada.Intaa waxaa dheer, hab cusub oo xasaasi ah oo loogu talagalay baarista guud ee yaraanta CBS ee dhallaanka cusub waa in la sameeyaa.