Isifo seMaple syrup

Isifo seMaple syrup urine (MSUD) sisifo apho umzimba ungenakho ukophula iinxalenye ezithile zeeproteni. Umchamo wabantu abanale meko unokunuka njengesiraphu yemephu.

Isifo se-Maple isirine isifo (i-MSUD) sizuzwa njengelifa, oko kuthetha ukuba sidluliswa kwiintsapho. Kubangelwa sisiphene kwi-1 kwi-3 yemfuza. Abantu abakule meko abanakho ukophula ii-amino acid leucine, isoleucine, kunye nevaline. Oku kukhokelela ekwandeni kwezi khemikhali zisegazini.

Ngeyona fomu inzima, i-MSUD inokonakalisa ingqondo ngexesha loxinzelelo lomzimba (njengosulelo, umkhuhlane, okanye ukungatyi ixesha elide).

Ezinye iintlobo ze-MSUD zithambile okanye ziza kwaye zihambe. Nokuba ikwimo emnene, amaxesha aphindaphindiweyo oxinzelelo lomzimba kunokubangela ukukhubazeka kwengqondo kunye namanqanaba aphezulu e-leucine ukuba akhe.

Iimpawu zesi sifo zibandakanya:

• Coma
• Ubunzima bokutya
• Ukuhamba
• Ukuxhuzula
• Umchamo onuka isiraphu yemephu
• Ukuhlanza

Olu vavanyo lunokwenziwa ukukhangela esi sifo:

• Uvavanyo lwePlasma amino acid
• Uvavanyo lwe-organic acid
• Uvavanyo lwemfuzo

Kuya kubakho iimpawu ze-ketosis (i-ketone eyakhiwe, imveliso ephuma kumanqatha avuthayo) kunye ne-asidi eninzi kwigazi (i-acidosis).

Xa imeko ifunyenwe, kwaye ngexesha leziqendu, unyango lubandakanya ukutya ukutya okungekho protein. Ulwelo, iswekile, kwaye ngamanye amaxesha amafutha anikezelwa ngomthambo (IV). I-Dialysis ngokusebenzisa isisu sakho okanye umthambo unokwenziwa ukunciphisa inqanaba lezinto ezingaqhelekanga egazini lakho.

Unyango lwexesha elide lufuna ukutya okhethekileyo. Kwiintsana, ukutya kubandakanya ifomula enamanqanaba asezantsi e-amino acid leucine, isoleucine kunye nevaline. Abantu abakule meko kufuneka bahlale kukutya okuncinci kwezi amino acid ebomini.

Kubaluleke kakhulu ukuhlala ulandela le ndlela yokutya ukuthintela ukonakala kwenkqubo yemithambo-luvo. Oku kufuna ukuvavanywa kwegazi rhoqo kunye nokujongwa ngokusondeleyo ngugqirha otyikityiweyo kunye nogqirha, kunye nokusebenzisana ngabazali babantwana abanale meko.

Esi sifo sinokusongela ubomi ukuba asinyangwa.

Nokuba kunyango lokutya, iimeko zoxinzelelo kunye nokugula zisenokubangela amanqanaba aphezulu eeamino acid ezithile. Ukufa kunokwenzeka ngexesha lezi ziqendu. Ngonyango olungqongqo lokutya, abantwana bakhule baba badala kwaye banokuhlala besempilweni.

Ezi ngxaki zinokwenzeka:

• Umonakalo wemithambo-luvo
• Coma
• Ukufa
• Ukukhubazeka kwengqondo

Tsalela umnxeba wakho ukuba unembali yosapho ye-MSUD kwaye uceba ukuqala usapho. Fowunela umnikezeli wakho kwangoko ukuba unosana olusandul 'ukuzalwa oluneempawu zesifo semchamo yemephu yesiraphu.

Ukucebisa ngemfuza kuyacetyiswa kubantu abafuna ukuba nabantwana kwaye banembali yosapho yesifo semchamo semephu. Amazwe amaninzi ngoku ahlola zonke iintsana kunye nokuhlolwa kwegazi kwi-MSUD.

Ukuba uvavanyo lokuvavanywa lubonisa ukuba usana lwakho lunokuba ne-MSUD, uvavanyo lwegazi olulandelayo lwamanqanaba e-amino acid kufuneka lwenziwe kwangoko ukuqinisekisa isifo.

MSUD

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IKliegman RM, iSt. Geme JW, iBlum NJ, i-Shah SS, iTasker RC, uWilson KM. Iziphene kwimetabolism yeeamino acid. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla wama-21. IPhiladelphia, PA: Elsevier; 2020: isahl. 103.

UMerritt JL, uGallagher RC. Iimpazamo ezizelwe kwi-carbohydrate, i-ammonia, i-amino acid, kunye ne-organic acid metabolism. Ku: Gleason CA, Juul SE, ii-eds. Izifo zika-Avery Zomntwana osandul 'ukuzalwa. Ngomhla we-10. IPhiladelphia, PA: Elsevier; I-2018: isahluko 22.