noun Pathology. ntau dhau ntawm homogentisic acid nyob rau hauv cov zis, tshwm sim los ntawm kev hloov pauv ntawm cov metabolism ntawm tyrosine thiab phenylalanine.
Dab tsi yog ua rau Alkaptonuria?
Alkaptonuria yog tshwm sim los ntawm mutation ntawm homogentisate 1, 2-dioxygenase (HGD) gene. HGD noob muaj cov lus qhia rau kev tsim (encoding) ib qho enzyme hu ua homogentisate 1, 2-dioxygenase. Cov enzyme no tseem ceeb rau kev tawg ntawm homogentisic acid.
Qhov txawv ntawm phenylketonuria thiab Alkaptonuria yog dab tsi?
Alkaptonuria yog ib qho kev tsis txaus ntawm caj ces uas ua rau tsis tiav oxidation ntawm tyrosine thiab phenylalanine, ua rau nce qib ntawm 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.
Alkaptonuria txhais li cas?
Alkaptonuria, los yog "mob zis dub", yog ib yam kab mob uas tsis tshua muaj 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.
