Nws kwv yees tias ib ntawm txhua 25,000 tus menyuam yug los hauv Tebchaws Meskas muaj qee hom MPS. LSD: Lysosomal storage disorders Lysosomal storage disorders Lysosomal storage disease (LSDs; /ˌlaɪsəˈsoʊməl/) yog ib pab pawg ntawm kwv yees li 50 qhov tsis tshua muaj txiaj ntsig metabolic uas tshwm sim los ntawm qhov tsis zoo hauv lysosomal muaj nuj nqi Lysosomes yog sacs nyob rau hauv cov hlwb uas zom cov molecules loj thiab kis cov fragments mus rau lwm qhov ntawm lub cell rau recycling. https://en.wikipedia.org › wiki › Lysosomal_storage_disease
Lysosomal storage disease - Wikipedia
yog ib pawg ntawm kwv yees li tsib caug tus kab mob cuam tshuam los ntawm cov kab mob sib kis. Nyob ib ncig ntawm 1 ntawm 50 tus neeg raug cuam tshuam los ntawm ib tus kab mob paub ib leeg, thaum nyob ib ncig ntawm 1 ntawm 263 raug cuam tshuam los ntawm chromosomal disorder. Nyob ib ncig ntawm 65% ntawm cov tib neeg muaj qee yam teeb meem kev noj qab haus huv raws li qhov tshwm sim ntawm kev hloov pauv ntawm caj ces. https://en.wikipedia.org › wiki › Genetic_disorder
Kev mob caj ces - Wikipedia
uas tshwm sim thaum tsis muaj enzyme ua rau lub cev tsis muaj peev xwm rov ua cov khoom pov tseg ntawm tes.
Koj puas tuaj yeem ua enzyme deficiency?
Enzyme deficiency ua rau sau cov tshuaj lom tshuaj lom uas tuaj yeem cuam tshuam cov haujlwm hauv nruab nrog cev thiab ua rau tsis ua haujlwm hauv kev tsim cov tshuaj lom neeg lom neeg thiab lwm yam nruab nrab. Cov kab mob MED muaj feem cuam tshuam txog kev nthuav qhia kev kho mob thoob plaws thiab tuaj yeem koom nrog yuav luag txhua lub cev.
Dab tsi ua rau muaj enzyme deficiency?
Cov kab mob metabolic cuam tshuamyog cov kab mob caj ces uas ua rau muaj teeb meem metabolism. Feem ntau cov neeg uas muaj cov kab mob metabolic uas tau tshwm sim muaj cov noob tsis zoo uas ua rau muaj qhov tsis txaus enzyme. Muaj ntau pua tus kab mob sib txawv ntawm cov kab mob metabolic, thiab lawv cov tsos mob, kev kho mob, thiab kev kwv yees sib txawv.
Dab tsi yog qee yam ntawm cov enzyme deficiency uas tib neeg muaj?
Piv txwv suav nrog:
- Tsev neeg hypercholesterolemia.
- kab mob Gaucher.
- Hunter Syndrome.
- Krabbe disease.
- Maple syrup urine disease.
- Metachromatic leukodystrophy.
- Mitochondrial encephalopathy, lactic acidosis, mob stroke zoo li (MELAS)
- Niemann-Pick.
Dab tsi yog qhov tsis txaus enzyme feem ntau hauv tib neeg?
G6PD deficiency yog ib qho ntawm ntau hom enzyme deficiency thiab ntseeg tias yuav cuam tshuam ntau dua 400 lab tus tib neeg thoob ntiaj teb.
