Isifo se-maple isiraphu ye-urine (MSUD) yisifo esiwumzimba esenza ubungozi bobuchopho nokukhubazeka kwesistimu okuqhubekayo. Iphutha lezakhi ezikhiqiza imiphumela ye-MSUD ngesiphambeko enzyme ebizwa ngokuthi i-alpha-keto acid dehydrogenase, i-BCKD), okudingekayo ukuhlukana kwe-amino acids leucine, isoleucine, ne-valine. Ngaphandle kwe-enzyme ye-BCKD, la ma-amino acids akha amazinga anobuthi emzimbeni.
I-MSUD idinga igama layo lokuthi, ngezinye izikhathi lapho amazinga e-amino acid ephezulu, umchamo uthatha iphunga elimnandi elimangalisayo.
Isifo se-maple isiraphu somchamo kwenzeka cishe ku-1 000 ku-180,000 ukuzalwa okuphilayo futhi kuthinta kokubili abesilisa nabesifazane. I-MSUD ithinta abantu bazo zonke izizinda, kodwa amazinga aphezulu esi sifo ayenzeka emiphakathini eningi emishadweni, njengomphakathi waseMenonite ePennsylvania (US).
Izimpawu
Kunezinhlobo eziningana zezifo ze-maple isiraphu yomchamo. Ifomu elivamile kakhulu (elivamile) lizoveza izimpawu ezinganeni ezisanda kuzalwa ezineminyaka engu-4 kuya kwezingu-7. Lezi zimpawu zingabandakanya:
- Ukudla okumbi
- Ukuvota
- Ukuncipha kokunciphisa umzimba
- Ukwandisa ubuchopho (kunzima ukuvuka)
- Izakhi zishisa ushukela iphunga kumchamo
- Izinguquko kumathoni we-muscle, ama-muscle spasms, kanye nokuqothulwa
Uma kushiywe kungalashwa, lezi zinsana zizofa nezinyanga zokuqala zokuphila.
Abantu abane-MSUD ephakathi, uhlobo lwesibili oluvame kakhulu lwe-disorder, bahlakulele ngokujwayelekile kepha uma begula babonisa izimpawu ze-MSUD zakudala.
I-MSUD ephakathi iyifomu engavamile. Abantu abanalolu hlobo bane-3-30% yezinga elijwayelekile le-enzyme ye-BCKD, ngakho-ke izimpawu zingase ziqale nganoma yisiphi isikhathi.
E-MSUD esabela nge-thiamine, abantu babonisa ukuthuthukiswa okunye lapho kunikezwa izithako ze- thiamine .
Ifomu elingavamile kakhulu le-disorder yi-MSUD engenamkhawulo-E3, lapho abantu abanamakhemikhali enoketshezi okwanele.
Ukuxilongwa
Uma i-maple syrup isifo se-urine isolwe ngokusekelwe ezimpawu zomzimba, ikakhulukazi isiphuzo se-urine, i-blood test yamino acid ingenziwa. Uma i-alloisoleucine itholakele, ukuxilongwa kuqinisekisiwe. Ukuhlolwa njalo kwezinsana ze-MSUD kwenziwa emazweni amaningana ase-US
Ukwelapha
Ukwelashwa okuyinhloko kwesifo se-maple isiraphu somchamo kuyimingcele yezinhlobo zokudla ze-amino acids leucine, i-isoleucine, ne-valine. Lezi zimingcele zokudla kumele ziphile impilo yonke. Kukhona amafomula amaningi okuhweba nokudla kwabanye abane-MSUD.
Ukukhathazeka okukodwa kokwelashwa kwe-MSUD yukuthi lapho umuntu ogulayo egula, emele, noma ehlinzwa, lesi sifo siphuthumayo. Iningi labantu lizodinga ukulaliswa esibhedlela kulezi zikhathi zokuphathwa kwezokwelapha ukuvimbela izinkinga ezinkulu.
Ngenhlanhla, ngokunamathela emikhawulweni yokudla kanye nokuhlolwa kwezempilo njalo abantu abane-maple isiraphu ye-urine bangaphila ukuphila okude futhi okunempilo.
Imithombo:
I-Bodamer, i-OA (2003). Isifo se-maple isiraphu yomchamo. eMedicine.
Morton DH, Strauss KA, uRobinson DL, et al. Ukuxilongwa nokwelashwa kwesifo se-maple isiraphu: isifundo seziguli ezingu-36. Izingane zokwelapha 2002; 109: 999.