Qhov sib txawv tseem ceeb ntawm alkaptonuria thiab phenylketonuria yog alkaptonuria yog ib qho kab mob caj ces uas tshwm sim los ntawm qhov tsis muaj peev xwm los metabolize ob amino acids, tyrosine thiab phenylalanine, thaum phenylketonuria yog ib qho kab mob caj ces uas tshwm sim los ntawm kev tsis muaj peev xwm metabolize. Cov amino acid phenylalanine.
Inborn yuam kev ntawm cov metabolism yog tsis tshua muaj noob caj noob ces. Hauv cov xwm txheej no, lub cev tsis tuaj yeem hloov zaub mov mus rau lub zog kom zoo. Cov teeb meem ntawm kev yug me nyuam tsis ua haujlwm ntawm cov metabolism hauv ib txwm yog tshwm sim los ntawm qhov tsis xws ntawm cov enzymes tshwj xeeb uas pab txhawm rau zom cov khoom noj. Muaj ntau ntau yam ntawm inborn yuam kev ntawm metabolism. Qee tus ntawm lawv yog fructose intolerance, galactosemia, maple qab zib urine kab mob, alkaptonuria, thiab phenylketonuria.
Alkaptonuria yog dab tsi?
Alkaptonuria yog ib qho kev mob caj ces uas tshwm sim los ntawm qhov tsis muaj peev xwm ua kom metabolize ob amino acids: tyrosine thiab phenylalanine. Nws yog ib hom inborn yuam kev ntawm metabolism. Qhov teeb meem no yog vim muaj kev hloov pauv hauv cov noob hu ua HGD, uas yog lub luag haujlwm rau kev tsim cov enzyme hu ua HGD (homogentisate 1, 2-dioxygenase). HGD enzyme koom nrog hauv cov metabolism ntawm cov tshuaj tsw qab amino acids tyrosine thiab phenylalanine. Cov neeg uas muaj HGD kev hloov pauv tsis tuaj yeem metabolize homogentisic acid tsim los ntawm tyrosine rau hauv 4-maleylacetoacetate. Qhov kev tsis zoo no ua rau muaj kev sib txuam ntawm homogentisic acid hauv cov ntshav thiab cov ntaub so ntswg. Tsis tas li ntawd, nyob rau hauv cov xwm txheej no, homogentisic acid thiab nws daim ntawv oxidized (alkapton) raug tso tawm hauv cov zis, uas muab cov xim tsis zoo rau cov zis.
Daim duab 01: Alkaptonuria
Cov cim qhia thiab cov tsos mob muaj xws li cov ntaub so ntswg tsaus hauv lub cev, teeb meem sib koom tes thiab pob txha (osteoarthritis), thickening thiab xiav-dub ntawm pob ntseg pob txha (ochronosis), pob ntseg dub lossis xim liab-xim av, xim av lossis grey me ntsis Nyob rau ntawm qhov muag dawb, hws tsis muaj xim, xiav lossis dub speckled thaj chaw ntawm daim tawv nqaij, xim xiav rau tes, ua pa nyuaj, teeb meem plawv (lub plawv li qub thiab cov hlab ntsha tawv), pob zeb raum, pob zeb zais zis, thiab pob zeb prostate. Kev kuaj mob ntawm tus mob no tuaj yeem ua tau los ntawm kev kuaj lub cev, cov neeg mob keeb kwm yav dhau los, kuaj zis, roj chromatography los kuaj cov kab mob homogentisic acid, thiab kuaj DNA los kuaj kev hloov pauv ntawm HGD noob. Tsis tas li ntawd, cov kev kho mob muaj xws li muab nisitone los txo homogentisic acid hauv lub cev, txwv tsis pub cov proteins hauv kev noj haus, kev tawm dag zog rau qhov mob thiab txhav, thiab kev kho mob los ntawm cov tshuaj tua kab mob.
Phenylketonuria yog dab tsi?
Phenylketonuria yog ib qho kev mob caj ces uas tshwm sim los ntawm qhov tsis muaj peev xwm ua kom metabolize tsuas yog ib qho amino acid: phenylalanine. Tus mob no feem ntau yog vim muaj kev hloov pauv hauv cov noob hu ua PAH, uas yog encodes rau ib qho enzyme hu ua phenylalanine hydroxylase. Qhov no enzyme yog tsim nyog los metabolize amino acid phenylalanine rau cov amino acid tyrosine. Thaum phenylalanine hydroxylase kev ua si txo vim kev hloov pauv, phenylalanine accumulates thiab hloov mus rau phenylpyruvate (phenylketone), uas tuaj yeem kuaj pom hauv cov zis.
Daim duab 02: Phenylketonuria
Cov tsos mob thiab cov tsos mob ntawm tus kab mob no yuav suav nrog cov ntxhiab tsw hauv hws, tawv nqaij, lossis zis, teeb meem hauv paj hlwb nrog rau qaug dab peg, tawv nqaij ncaj thiab qhov muag xiav, lub taub hau me me, ua siab loj, tsis muaj peev xwm txawj ntse, kev loj hlob qeeb, kev coj cwj pwm, kev xav., teeb meem kev sib raug zoo, thiab kev puas siab puas ntsws. Kev kuaj mob yog ua los ntawm kev kuaj ntshav me nyuam mos, kev soj ntsuam kuaj mob, thiab kuaj DNA rau kev hloov pauv noob. Tsis tas li ntawd, kev kho mob feem ntau yog los ntawm kev tswj hwm kev noj zaub mov, uas suav nrog cov khoom noj uas muaj cov phenylalanine tsawg (txo cov proteins) thiab cov mis tshwj xeeb rau cov menyuam mos uas muaj mis me me. Cov tshuaj sapropterin dihydrochloride kuj tseem siv tau rau qee kis. Cov tshuaj no yog cofactor rau cov enzyme phenylalanine hydroxylase, uas txhim kho nws cov dej num.
Dab tsi yog qhov zoo sib xws ntawm Alkaptonuria thiab Phenylketonuria?
- Alkaptonuria thiab phenylketonuria yog ob qho kev ua tsis zoo ntawm cov metabolism.
- Ob leeg yog cov kab mob caj ces.
- Cov kab mob no ua raws autosomal recessive qub txeeg qub teg.
- Ob qho kev tsis sib xws ua rau muaj cov metabolites hauv cov ntaub so ntswg hauv lub cev.
- Lawv feem ntau yog kho los ntawm kev txwv cov zaub mov muaj protein ntau.
Qhov txawv ntawm Alkaptonuria thiab Phenylketonuria yog dab tsi?
Alkaptonuria yog ib qho kab mob caj ces uas tshwm sim los ntawm qhov tsis muaj peev xwm ua kom metabolize ob amino acids, tyrosine thiab phenylalanine, thaum phenylketonuria yog ib qho kev mob caj ces uas tshwm sim los ntawm qhov tsis muaj peev xwm metabolize cov amino acid phenylalanine. Yog li, qhov no yog qhov sib txawv tseem ceeb ntawm alkaptonuria thiab phenylketonuria. Tsis tas li ntawd, alkaptonuria thoob ntiaj teb kev nthuav dav yog 1 ntawm 250000 txog 1000000 tus menyuam yug nyob, thaum lub ntiaj teb phenylketonuria prevalence yog 1 ntawm 23930 yug nyob.
Cov ntawv qhia hauv qab no nthuav tawm qhov sib txawv ntawm alkaptonuria thiab phenylketonuria hauv daim ntawv tabular rau ib sab ntawm kev sib piv.
Summary – Alkaptonuria vs Phenylketonuria
Inborn yuam kev ntawm metabolism yog tsis tshua muaj noob caj noob ces. Alkaptonuria thiab phenylketonuria yog ob qho kev ua tsis zoo hauv cov metabolism. Alkaptonuria tshwm sim los ntawm qhov tsis muaj peev xwm metabolize ob amino acids tyrosine thiab phenylalanine thaum phenylketonuria tshwm sim los ntawm qhov tsis muaj peev xwm metabolize cov amino acid phenylalanine. Yog li, qhov no qhia txog qhov sib txawv ntawm alkaptonuria thiab phenylketonuria.
