I-3-Hydroxy-4,5-bis (hydroxymethyl) -2-methylpyridine Cas: 65-23-6 powder omhlophe
| Inombolo Yekhathalogu | XD90442 |
| Igama lemveliso | I-3-Hydroxy-4,5-bis (hydroxymethyl) -2-methylpyridine |
| CAS | 65-23-6 |
| Ifomula yeemolekyuli | C8H11NO3 |
| Ubunzima beMolekyuli | 169.18 |
| Iinkcukacha zokuGcina | I-Ambient |
| IKhowudi yoMrhumo eHarmonized | 29362500 |
Ukucaciswa kweMveliso
| Imbonakalo | Umgubo omhlophe |
| Isivavanyi | >99% |
| Ukuxinana | Ixesha elifanayo lokugcinwa |
| Intsalela kwi-ingnition | <0.5% |
| Ukuchongwa | Ukusabela okulungileyo |
| Ilahleko ekomisweni | <0.5% |
| Ubumuncu | 2.6 |
Iinguqu ezimbini kuhlobo lwe-cystathionine beta-synthase (CBS) zafunyanwa kubantakwabo ababini baseJapan abane-pyridoxine engaphenduliyo homocystinuria ababenamanqanaba ahlukeneyo e-methionine egazini labo ngexesha lokuzala.Zombini izigulane zaziyi-heterozygotes edibeneyo yee-alleles ezimbini eziguqukayo: enye yayinotshintsho lwe-A-to-G kwi-nucleotide 194 (A194 G) eyabangela ukutshintshwa kwe-histidine-to-arginine kwindawo ye-65 yeprotheni (H65R), ngelixa enye ine- I-G-to-A inguqu kwi-nucleotide 346 (G346A) eyabangela ukutshintshwa kwe-glycine-to-arginine kwindawo ye-116 yeprotheni (G116R).Iiprotheyini ezimbini eziguqukayo zavezwa ngokwahlukeneyo kwi-Escherichia coli, kwaye zaziswela ngokupheleleyo umsebenzi wokunceda.Ngaphandle kohlobo olufanayo lwe-genotypes kunye nokutya okuphantse kulingane kweeprotheyini, aba bantakwethu babonise amanqanaba ahlukeneyo egazi le-methionine ngexesha lokuzala, bebonisa ukuba inqanaba le-methionine egazini alimiselwanga kuphela sisiphene kumfuza we-CBS kunye nokutya kweprotein, kodwa nangokwenkqubo ye-CBS. umsebenzi wezinye ii-enzymes ezibandakanyekayo kwi-methionine kunye ne-homocysteine metabolism, ngakumbi ngexesha lokuzala.Ke ngoko, abantwana abasanda kuzalwa abasemngciphekweni omkhulu abanabantakwabo abane-homocystinuria, nokuba inqanaba le-methionine egazini labo liqhelekile kuvavanyo lwe-neonatal mass screening, kufuneka lulandelwe kwaye lufunyaniswe ngovavanyo lomsebenzi we-enzyme okanye uhlalutyo lwemfuza ukuze unyango lube noku. iqale ngokukhawuleza ukuthintela ukuphuhliswa kweempawu zeklinikhi.Ukongeza, indlela entsha, enovakalelo ngakumbi yovavanyo lobunzima be-CBS kubantwana abasanda kuzalwa kufuneka iphuhliswe.
