Isifo sesiphuphu se-Maple syrup (MSUD) sisifo se-genetic esibangela ukulimala kwengqondo kunye nokunyuka kwesantya kwenkqubo. Impembelelo yezofuzo ezivelisa iziphumo ze-MSUD kwisiphene kwi-enzyme ebizwa ngokuthi i-alpha-keto acid dehydrogenase, (BCKD), efunekayo ukuphuka kwe-amino acids leucine, isoleucine, kunye ne-valine. Ngaphandle kwe-enzyme ye-BCKD, ezi zi-amino acids zakha kumazinga enobungozi emzimbeni.
I-MSUD ifumana igama layo kwinto yokuba, ngamanye amaxesha amanqanaba e-amino acid ephakamileyo, umchamo uthatha iphunga elimnandi elincinane.
Isifo sesiraphu se-urine siphunga senzeke malunga ne-1 000 kuma-180,000 azalwa ngokuzalwa kwaye ichaphazela abesilisa nabesifazana. I-MSUD ithintela abantu bazo zonke iintlanga, kodwa amazinga aphezulu esi sifo ayenzeka kwiindawo apho kukho intlaninge emininzi, njengomphakathi waseMenonite ePennsylvania (US).
Iimpawu
Kukho ezininzi iintlobo zesifo se-maple syrup urine. Ifom yezona ziqhelekileyo (eziqhelekileyo) ziya kuthi zivelise iimpawu kwiintsana ezisandul 'intsha ezineminyaka engama-4 ukuya kwi-7. Ezi zimpawu zingabandakanya:
- Ukutya okubi
- Ukuvutha
- Ukufumana ubunzima obunzima
- Ukwandisa ubuqhetseba (kunzima ukuvuka)
- Impawu eshushu ishukela iphunga umchamo
- Utshintsho kwiitoni ze-muscle, ukusabalalisa imisipha, kunye nokutshatyalaliswa
Ukuba ishiywe ingaphathiswa, le ntsana iya kufa kunye neenyanga zokuqala zokuphila.
Abantu abathile abane-MSUD ephakathi, uhlobo lwesibini oluqhelekileyo lwe-disorder, qulunqa ngokuqhelekileyo kodwa xa ugula sibonisa iimpawu ze-MSUD zakudala.
I-MSUD ephakathi yifomu engavumelekanga. Abantu abanolu hlobo bane-3-30% yezinga eliqhelekileyo le-enzyme ye-BCKD, ngoko iimpawu zingaqala nanini na.
Kwi-MSUD ephendula i-thiamine, abantu babonisa ukuphuculwa kwexesha xa kunikwa izithako ze-thiamine .
Ifomu engavumelekanga yintlupheko yi-EUD-e-MSUD engekhoyo, apho abantu banokongezwa okongeziweyo kweezymes.
Ukuxilongwa
Ukuba isifo se-urle syrup sesigqirha sikhankanywa ngokusekelwe kwiimpawu zomzimba, ngokukodwa ukuvumba komchamo, uvavanyo lwegazi lwe-amino acids lwenziwa. Ukuba i-alloisoleucine ifunyenwe, ukuxilongwa kuqinisekiswa. Ukujonga rhoqo iintsana ze-MSUD kwenziwa kwiindawo ezininzi ngaphakathi kwe-US
Unyango
Uphulo oluphambili lwe-maple israphu isifo se-urine ngumqobo wezityalo zokutya ezi-atatu ze-amino acids leucine, isoleucine, kunye ne-valine. Ezi zithintelo zokutya kufuneka ziphile. Kukho iindlela ezininzi zokuthengisa kunye nokutya kubantu abane-MSUD.
Enye inkxalabo yonyango lwe-MSUD kukuba xa umntu ochaphazelekayo egula, enzakele, okanye enokuhlinzwa, le ngxaki iyenyuka. Uninzi lwabantu luya kufuna ukulaliswa esibhedlele ngexesha la maxesha ukulawulwa kwezonyango ukukhusela iingxaki ezinzulu.
Ngethamsanqa, ngokunamathela kwimimiselo yokutya kunye nokuhlolwa rhoqo kwezonyango abantu abane-maple syrup isifo se-urine bangaphila ubomi obude kunye nobunempilo.
Imithombo:
Bodamer, OA (2003). Isifo sesiraphu yesifo se-urine. eMedicine.
Morton DH, Strauss KA, uRobinson DL, et al. Ukuxilongwa kunye nokunyangwa kwesifo se-maple isiraphu: ukufundwa kwezigulane ezingama-36. Izifo zengqondo ngo-2002; 109: 999.