alkaptonuria, tsis tshua muaj (ib qho ntawm 250, 000 txog 1, 000, 000 yug) kev mob tshwm sim los ntawm kev muaj kab mob sib kis. Nyob ib ncig ntawm 1 ntawm 50 tus neeg raug cuam tshuam los ntawmib tus kab mob paub ib leeg, thaum nyob ib ncig ntawm 1 ntawm 263 raug cuam tshuam los ntawm chromosomal disorder. Nyob ib ncig ntawm 65% ntawm cov tib neeg muaj qee yam teeb meem kev noj qab haus huv raws li qhov tshwm sim ntawm kev hloov pauv ntawm caj ces. https://en.wikipedia.org › wiki › Genetic_disorder
Kev mob caj ces - Wikipedia
ntawm cov protein metabolism, thawj qhov txawv ntawm cov tsos mob ntawm cov zis uas tig dub tom qab raug huab cua. Nws yog tus yam ntxwv biochemically los ntawm qhov tsis muaj peev xwm ntawm lub cev kom metabolize cov amino acids tyrosine thiab phenylalanine.
Alkaptonuria yog dab tsi?
Alkaptonuria, lossis "mob zis dub", yog tsis tshua muaj kev mob tshwm sim uas tiv thaiv lub cev kom tawg tag nrho ob lub tsev protein(amino acids) hu ua tyrosine thiab phenylalanine. Nws ua rau muaj kev tsim cov tshuaj hu ua homogentisic acid hauv lub cev.
Dab tsi yog ua rau Alkaptonuria?
Alkaptonuria yog tshwm sim los ntawm kev hloov pauv ntawm koj homogentisate 1, 2-dioxygenase (HGD) gene. Nws yog ib qho mob autosomally recessive. Qhov no txhais tau tias koj ob leeg niam txiv yuav tsum muaj cov noob txhawm rau kis tus mob rau koj. Alkaptonuria yog ib yam kab mob tsawg.
Dab tsi enzyme deficiency hauv 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.
Dab tsi ua rau cov zis dub?
tso zis tsaus yog feem ntau yog vim dehydration Txawm li cas los xij, nws yuav yog qhov qhia tau tias cov khoom pov tseg ntau dhau, tsis zoo, lossis cov khoom pov tseg uas muaj feem cuam tshuam rau hauv lub cev. Piv txwv li, cov zis xim av tsaus yuav qhia tau tias muaj kab mob siab vim muaj cov kua tsib nyob hauv cov zis.
