3-Hydroxy-4,5-bis (hydroxymethyl) -2-methylpyridine Cas: 65-23-6 phofo e tšoeu
| Nomoro ea lethathamo | XD90442 |
| Lebitso la Sehlahiswa | 3-Hydroxy-4,5-bis (hydroxymethyl) -2-methylpyridine |
| CAS | 65-23-6 |
| Foromo ea limolek'hule | C8H11NO3 |
| Boima ba Molek'hule | 169.18 |
| Lintlha tsa polokelo | Ambient |
| Khoutu ea Lekhetho e Kopantsoeng | 29362500 |
Tlhaloso ea Sehlahisoa
| Ponahalo | Phofo e tšoeu |
| Tlhahlobo | >99% |
| Botenya | Nako e ts'oanang ea ho boloka |
| Masalla ka ho qala | <0.5% |
| Boitsebiso | Boitšoaro bo botle |
| Tahlehelo ka ho Omisa | <0.5% |
| Asiti | 2.6 |
Liphetoho tse peli mofuteng oa cystathionine beta-synthase (CBS) li fumanoe ho bana ba motho ba Majapane ba nang le pyridoxine e sa arabeleng homocystinuria ba neng ba e-na le maemo a fapaneng a methionine maling a bona nakong ea lesea.Bakuli ka bobeli e ne e le li-heterozygote tse kopaneng tsa li-allele tse peli tse fetotsoeng: e mong o ne a e-na le phetoho ea A-to-G ho nucleotide 194 (A194 G) e ileng ea baka sebaka sa histidine-to-arginine sebakeng sa 65 sa protheine (H65R), ha e mong a ne a e-na le Phetoho ea G-to-A ho nucleotide 346 (G346A) e entseng hore ho be le sebaka sa glycine-to-arginine sebakeng sa 116 sa protheine (G116R).Liprotheine tse peli tse fetotsoeng li ile tsa hlahisoa ka thoko ho Escherichia coli, 'me li ne li haelloa ke ts'ebetso ea matla.Leha ho na le li-genotype tsa bona tse ts'oanang le ho ja liprotheine tse batlang li lekana, banab'abo bona ba bonts'itse maemo a fapaneng a mali a methionine nakong ea lesea, ba fana ka maikutlo a hore boemo ba methionine maling ha bo khethoe feela ke bofokoli ba liphatsa tsa lefutso tsa CBS le protheine. ts'ebetso ea li-enzyme tse ling tse amehang ho metabolism ea methionine le homocysteine haholo-holo nakong ea lesea.Ka hona, masea a kotsing e kholo a nang le banab'abo ba nang le homocystinuria, le haeba boemo ba methionine maling a bona bo tloaelehile nakong ea tlhahlobo ea boima ba masea a sa tsoa tsoaloa, ba lokela ho lateloa le ho fumanoa ka tlhahlobo ea ts'ebetso ea enzyme kapa tlhahlobo ea liphatsa tsa lefutso e le hore kalafo e ka ba teng. e qalile kapele kamoo ho ka khonehang ho thibela nts'etsopele ea matšoao a kliniki.Ho feta moo, mokhoa o mocha, o hlokolosi haholoanyane oa tlhahlobo ea bongata ba khaello ea CBS ho masea a sa tsoa tsoaloa o lokela ho ntlafatsoa.
