Nā huahana

ʻElua mau hoʻololi i loko o ka cystathionine beta-synthase (CBS) gene i loaʻa i ʻelua mau kaikunāne Iapana me ka pyridoxine non-responsive homocystinuria i loaʻa nā pae methionine ʻokoʻa i ko lākou koko i ka wā neonatal.ʻO nā mea maʻi ʻelua he heterozygotes o ʻelua mau alele mutant: ua loaʻa i kekahi ka hoʻololi A-to-G ma ka nucleotide 194 (A194 G) i hoʻololi i ka histidine-to-arginine ma ke kūlana 65 o ka protein (H65R), aʻo kekahi he ʻO ka hoʻololi ʻana o G-to-A ma ka nucleotide 346 (G346A) i hopena i kahi hoʻololi glycine-to-arginine ma ke kūlana 116 o ka protein (G116R).Ua hōʻike ʻokoʻa ʻia nā protein mutant ʻelua ma Escherichia coli, a nele loa lākou i ka hana catalytic.ʻOiai ʻo kā lākou genotypes like a me ka ʻai like ʻana o ka protein, ua hōʻike kēia mau kaikunāne i nā pae like ʻole o ka methionine koko i ka wā neonatal, e hōʻike ana i ke kiʻekiʻe o ka methionine i loko o ke koko ʻaʻole i hoʻoholo wale ʻia e ka hemahema o ka CBS gene a me ka lawe ʻana i ka protein, akā pū kekahi. ka hana o nā enzyme ʻē aʻe e pili ana i ka methionine a me ka homocysteine ​​​​metabolism, ʻoi aku hoʻi i ka wā neonatal.No laila, he mea maʻamau ka nui o ka methionine i loko o ko lākou koko i ka nānā ʻana i ka nui o ka neonatal, pono e hahai ʻia a ʻike ʻia e ka hoʻomaʻamaʻa ʻana i ka hana enzyme a i ʻole ka nānā ʻana o ka gene i hiki ke mālama ʻia ka lāʻau. hoʻomaka koke e pale i ka ulu ʻana o nā hōʻailona maʻi.Eia kekahi, pono e hoʻomohala ʻia kahi ala hou, ʻoi aku ka maʻalahi no ka nānā nui ʻana o ka hemahema CBS i nā neonates.