Inborn yuam kev ntawm metabolism (IEM) yog caj ces yam mob uas thaiv cov txheej txheem metabolic cuam tshuam rau kev tawg ntawm cov as-ham thiab tiam ntawm lub zog. Kev cuam tshuam ntawm cov txheej txheem metabolic no ua rau muaj qhov pom ntawm cov kev tshawb fawb soj ntsuam cuam tshuam rau ntau lub cev.
Yuav ua li cas yog qhov yuam kev hauv yug los ntawm cov metabolism?
Phenylketonuria ClinicPKU ntau tshaj plaws tshwm sim los ntawm qhov tsis muaj ib qho enzyme, phenylalanine hydroxylase thiab yog qhov feem ntau paub txog kev ua txhaum ntawm cov metabolism hauv lub cev.
Lub ntsiab lus ntawm kev yug menyuam yuam kev ntawm metabolism yog dab tsi?
Yam yuam kev ntawm cov metabolism yog tsis tshua muaj caj ces (xws li) kab mob uas lub cev tsis tuaj yeem hloov zaub mov mus rau lub zog. Cov kab mob feem ntau tshwm sim los ntawm qhov tsis xws ntawm cov proteins tshwj xeeb (enzymes) uas pab ua kom tawg (metabolize) cov khoom noj.
Yuav ua li cas yog qee qhov piv txwv ntawm kev yug me nyuam ntawm cov metabolism hauv lub cev?
Piv txwv ntawm kev yug los ua tsis zoo ntawm cov metabolism suav nrog albinism, cystinuria (ua rau lub raum pob zeb), phenylketonuria (PKU), thiab qee hom kab mob gout, hnub rhiab heev, thiab kab mob thyroid.. Cov no tsuas yog ob peb yam ntawm ntau pua tus paub txog kev yug me nyuam ntawm cov metabolism.
Cov cim qhia thiab cov tsos mob ntawm kev yug me nyuam hauv plab metabolism yog dab tsi?
Symptoms
- poob ceeb thawj, lossis tsis ua tiav qhov hnyav thiab loj hlob hauv cov menyuam mos thiab menyuam yaus.
- Nyuaj thiab tsis muajlub zog.
- Hypoglycemia lossis ntshav qab zib qis.
- Kev noj zaub mov tsis zoo.
- teeb meem plab lossis ntuav.
- Cov kua qaub lossis ammonia hauv cov ntshav siab.
- Lub siab ua haujlwm tsis zoo.
- Kev loj hlob qeeb hauv cov menyuam mos thiab menyuam yaus.
