In alkaptonuria, HGD enzyme tsis tuaj yeem metabolize homogentisic acid (tsim los ntawm tyrosine) rau hauv 4-maleylacetoacetate, thiab homogentisic acid theem hauv cov ntshav yog 100-fold siab dua li qhov xav tau. ib txwm xav tau, txawm tias muaj ntau npaum li cas raug tshem tawm mus rau hauv cov zis los ntawm lub raum.
Dab tsi enzyme tsis txaus 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 tau tso rau hauv alkaptonuria?
Alkaptonuria, los yog "dub zis kab mob", yog ib yam kab mob uas tsis tshua muaj tshwm sim uas tiv thaiv lub cev tag nrho ua rau 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.
Yam tshuaj twg tau tso rau hauv cov ntaub so ntswg sib txuas hauv alkaptonuria?
Ntau homogentisic acid thiab lwm yam sib txuastau tso rau hauv cov ntaub so ntswg sib txuas, uas ua rau pob txha mos thiab tawv nqaij kom tsaus. Nyob rau tib lub sijhawm, kev tsim cov tshuaj no hauv cov pob qij txha ua rau mob caj dab. Homogentisic acid kuj tau tawm hauv cov zis, ua rau cov zis tig tsaus thaum raug huab cua.
Yuav ua li cas homogentisic acid ua tautxo?
Kev kho mob nrog ascorbic acid ob zaug ib hnub tuaj yeem txo qis cov ntaub so ntswg puas tsuaj, thiab cov menyuam yaus cuam tshuam kuj tau muab tso rau ntawm cov khoom noj muaj protein tsawg. Nitisinone therapy yuav txo tau homogentisic acid ntau lawm.
