Alkaptonuria tau txais txiaj ntsig raws li an autosomal recessive trait. Cov kab mob genetic recessive tshwm sim thaum ib tug neeg tau txais tib lub noob txawv txav rau tib yam los ntawm txhua tus niam txiv.
Puas alkaptonuria khiav hauv tsev neeg?
Alkaptonuria yog qub txeeg qub teg, uas txhais tau tias nws tau dhau los ntawm tsev neeg. Yog tias ob leeg niam txiv nqa ib daim qauv ntawm cov noob tsis ua haujlwm ntsig txog tus mob no, txhua tus ntawm lawv cov menyuam muaj 25% (1 ntawm 4) txoj hauv kev tsim tus kabmob.
Cov tsos mob ntawm alkaptonuria yog dab tsi?
Ib qho pom tseeb ntawm alkaptonuria hauv cov neeg laus yog thickening thiab xiav-dub discoloration ntawm pob ntseg pob txha. Qhov no hu ua ochronosis. Lub pob ntseg kuj tuaj yeem yog xim dub lossis xim liab-xim av. Ntau tus neeg tsim cov xim av lossis grey ntawm cov xim dawb ntawm lawv ob lub qhov muag thiab.
YPuas alkaptonuria thiab phenylketonuria zoo ib yam?
Alkaptonuria yog a cov caj ces tsis muaj peev xwm ua rau tsis tiav oxidation ntawm tyrosine thiab phenylalanine, ua rau nce qib homogentisic (los yog melanic) acid. Nws tseem hu ua phenylketonuria thiab ochronosis.
Dab tsi yog qhov tsis zoo enzyme ntawm alkaptonuria?
Alkaptonuria yog ib qho mob autosomal recessive uas tshwm sim los ntawm qhov tsis txaus ntawm
enzyme homogentisate 1, 2-dioxygenase . Qhov no enzyme deficiency ua rau nce qib ntawm homogentisic acid, ib yam khoom ntawm tyrosine thiab phenylalanine metabolism.
