Qhov sib txawv tseem ceeb ntawm phenylketonuria thiab galactosemia yog tias phenylketonuria yog tshwm sim los ntawm kev sib sau ntawm cov amino acid hu ua phenylalanine nyob rau hauv ntau yam kabmob ntawm lub cev, thaum galactosemia yog tshwm sim los ntawm tsub zuj zuj ntawm galactose ntsig txog tshuaj nyob rau hauv ntau yam kabmob ntawm lub cev. lub cev.
Phenylketonuria thiab galactosemia yog ob yam kab mob metabolic. Inherited metabolic disorders hais txog ntau hom kev kho mob uas tshwm sim los ntawm caj ces tsis xws luag lossis hloov pauv. Feem ntau, lawv tau txais los ntawm ob niam txiv thiab cuam tshuam nrog lub cev metabolism. Cov xwm txheej no tseem tuaj yeem raug hu ua inborn yuam kev ntawm metabolism.
Phenylketonuria yog dab tsi?
Phenylketonuria yog qhov tsis tshua muaj tshwm sim los ntawm metabolic. Nws tshwm sim vim qhov sib txuam ntawm cov amino acid hu ua phenylalanine hauv ntau lub cev ntawm lub cev. Phenylketonuria yog tshwm sim los ntawm qhov tsis xws luag hauv cov noob (PAH) uas sau cov enzyme xav tau los rhuav tshem phenylalanine. Yog tsis muaj cov enzyme no, ib qho txaus ntshai tsim cov amino acid no tshwm sim thaum tus neeg noj cov zaub mov uas muaj protein ntau lossis noj aspartame (ib qho khoom qab zib). Qhov no thaum kawg ua rau muaj teeb meem kho mob hnyav. Nyob rau hauv tas li ntawd ntawm lawv lub neej, cov neeg uas muaj PKU (me nyuam mos, me nyuam yaus, thiab cov neeg laus) yuav tsum tau ua raws li kev noj haus uas txwv phenylalanine. Ntxiv mus, cov menyuam mos hauv Tebchaws Meskas thiab ntau lub tebchaws raug kuaj PKU sai tom qab yug menyuam. Kev lees paub PKU txoj hauv kev yog tuaj yeem pab tiv thaiv kev noj qab haus huv.
Daim duab 01: Phenylketonuria
PKU cov cim qhia thiab cov tsos mob tuaj yeem mob me lossis hnyav, thiab lawv suav nrog cov ntxhiab tsw ntxhiab hauv qhov ua tsis taus pa, teeb meem hauv paj hlwb xws li qaug dab peg, tawv nqaij ua pob, tawv nqaij ncaj ncees thiab lub qhov muag xiav, lub taub hau me me, ua siab loj, tsis muaj peev xwm txawj ntse, qeeb. kev loj hlob, kev coj cwj pwm, teeb meem kev xav thiab kev sib raug zoo, thiab kev puas siab puas ntsws. Tus mob no tuaj yeem kuaj tau los ntawm tsev neeg keeb kwm, kuaj ntshav, thiab kuaj caj ces. Tsis tas li ntawd, kev noj zaub mov hauv lub neej nrog kev noj tsawg tsawg ntawm cov protein, nruab nrab amino acid kho, thiab cov tshuaj PKU xws li tshuaj sapropterin (Kuvan) yog cov kev kho mob rau PKU.
Galactosemia yog dab tsi?
Galactosemia yog ib qho tsis tshua muaj tshwm sim los ntawm cov kab mob metabolic uas tshwm sim vim muaj cov tshuaj galactose txuam nrog ntau yam hauv lub cev. Nws yog ib qho tsis tshua muaj qhov ua yuam kev ntawm cov metabolism uas cuam tshuam rau tus neeg lub peev xwm los metabolize galactose kom raug. Galactosemia ua raws li autosomal recessive hom ntawm cov qub txeeg qub teg, thiab nws yog vim muaj ib qho enzyme uas yog lub luag haujlwm rau galactose degradation txaus. Qhov teeb meem no tshwm sim los ntawm qhov tsis txaus ntawm ib qho enzyme hu ua galactose 1 phosphate uridylyl transferase (GALT) thiab yog vim muaj kev hloov pauv hauv cov noob xws li GALT, GALK1 thiab GALE.
Daim duab 02: Galactosemia
Cov tsos mob ntawm galactosemia tuaj yeem suav nrog ntuav, xeev siab, tsaug zog, noj zaub mov tsis zoo, nce qhov hnyav, tawv nqaij daj, qhov muag dawb (daj daj) thiab ntuav, raws plab, kab mob cataracts, daim siab puas, teeb meem raum, kev loj hlob tsis taus, thiab zes qe menyuam. malfunction nyob rau hauv cov ntxhais. Tsis tas li ntawd, kev kuaj mob ntawm tus mob no tuaj yeem ua tiav los ntawm tsev neeg keeb kwm, kuaj ntshav, kuaj zis, kuaj DNA, thiab tshuaj ntsuam enzyme. Tsis tas li ntawd, txoj kev kho mob rau galactosemia suav nrog kev noj zaub mov galactose tsawg. Qhov no txhais tau hais tias mis nyuj thiab lwm yam khoom noj uas muaj lactose lossis galactose tsis tuaj yeem noj. Tsis tas li ntawd, kev kho hais lus, kev npaj kev kawm rau tus kheej, thiab kev cuam tshuam, kev kho tshuaj hormone hloov tuaj yeem pab tau rau kev kho lwm yam tsos mob.
Dab tsi yog qhov zoo sib xws ntawm Phenylketonuria thiab Galactosemia?
- Phenylketonuria thiab galactosemia yog ob yam kab mob metabolic los yog yug los ntawm cov metabolism.
- Ob leeg yog vim muaj kev hloov pauv caj ces uas ua rau cov enzymes decencies.
- Ob leeg ua raws li autosomal recessive hom ntawm qub txeeg qub teg.
- Lawv kho tau los ntawm kev txwv kev noj haus.
Qhov txawv ntawm Phenylketonuria thiab Galactosemia yog dab tsi?
Phenylketonuria yog ib qho tsis tshua muaj tshwm sim los ntawm metabolic mob tshwm sim los ntawm kev sib sau ntawm cov amino acid hu ua phenylalanine nyob rau hauv ntau lub cev ntawm lub cev, thaum galactosemia yog ib qho tsis tshua muaj tshwm sim los ntawm metabolic mob tshwm sim los ntawm kev txuam nrog cov tshuaj galactose hauv ntau lub cev. ntawm lub cev. Yog li, qhov no yog qhov sib txawv tseem ceeb ntawm phenylketonuria thiab galactosemia. Tsis tas li ntawd, phenylketonuria yog vim kev hloov pauv ntawm PAH noob, thaum galactosemia yog vim kev hloov pauv ntawm cov noob xws li GALT, GALK1, thiab GALE.
Cov ntawv qhia hauv qab no nthuav tawm qhov sib txawv ntawm phenylketonuria thiab galactosemia hauv daim ntawv tabular rau ib sab ntawm kev sib piv.
Summary – Phenylketonuria vs Galactosemia
Phenylketonuria thiab galactosemia yog ob qho kev cuam tshuam ntawm metabolic los yog yug los ntawm cov metabolism hauv lub cev. Phenylketonuria tshwm sim los ntawm kev sib sau ntawm cov amino acid hu ua phenylalanine nyob rau hauv ntau yam kabmob ntawm lub cev, thaum galactosemia tshwm sim vim yog txuam nrog cov tshuaj galactose nyob rau hauv ntau yam kabmob ntawm lub cev. Yog li, qhov no qhia txog qhov sib txawv ntawm phenylketonuria thiab galactosemia.
