Isifo somchamo wamaple syrup

Isifo se-Maple syrup urine (MSUD) yisifo lapho umzimba ungakwazi ukudiliza izingxenye ezithile zamaprotheni. Umchamo wabantu abanalesi simo unuka njenge-maple syrup.

Isifo se-Maple syrup urine (MSUD) sizuzwa njengefa, okusho ukuthi sidluliselwa emindenini. Kubangelwa ukukhubazeka kuzakhi zofuzo ezi-1 kwezingu-3. Abantu abanalesi simo abakwazi ukwehlisa i-amino acid leucine, isoleucine, ne-valine. Lokhu kuholela ekwakhiweni kwala makhemikhali egazini.

Ngendlela ebucayi kakhulu, i-MSUD ingalimaza ubuchopho ngezikhathi zokuxineka ngokomzimba (njengokutheleleka, umkhuhlane, noma ukungadli isikhathi eside).

Ezinye izinhlobo ze-MSUD zimnene noma ziza futhi zihambe. Ngisho nangendlela emnene, izikhathi eziphindiwe zokuxineka emzimbeni zingadala ukukhubazeka kwengqondo namazinga aphezulu e-leucine akhe.

Izimpawu zalesi sifo zifaka:

• I-Coma
• Ukondla ubunzima
• Imikhuba emibi
• Ukuquleka
• Umchamo onuka isiraphu ye-maple
• Ukuhlanza

Lezi zivivinyo zingenziwa ukubheka lesi sifo:

• Ukuhlolwa kwe-Plasma amino acid
• Ukuhlolwa kwe-urine organic acid
• Ukuhlolwa kofuzo

Kuzoba nezimpawu ze-ketosis (ama-ketone amaningi, umkhiqizo ovela emafutheni avuthayo) ne-asidi eyeqile egazini (i-acidosis).

Lapho kutholakala isimo, nangesikhathi seziqephu, ukwelashwa kubandakanya ukufaka ukudla okungenawo amaprotheni. Uketshezi, ushukela, futhi kwesinye isikhathi amafutha anikezwa ngomthambo (IV). I-Dialysis ngesisu sakho noma umthambo ingenziwa ukunciphisa izinga lezinto ezingavamile egazini lakho.

Ukwelashwa kwesikhathi eside kudinga ukudla okukhethekile. Ezinganeni, indlela yokudla ifaka ifomula enamazinga aphansi e-amino acid leucine, isoleucine, ne-valine. Abantu abanalesi simo kufanele bahlale ekudleni okuphansi kula ma-amino acid impilo yonke.

Kubaluleke kakhulu ukulandela njalo lokhu kudla ukuvimbela ukulimala kwesistimu yezinzwa (neurological). Lokhu kudinga ukuhlolwa kwegazi kaningi nokuqondiswa okusondele ngudokotela obhalisiwe wezokudla kanye nodokotela, kanye nokubambisana kwabazali bezingane ezinalesi sifo.

Lesi sifo singasongela impilo uma singelashwa.

Ngisho nangokwelashwa kokudla, izimo ezicindezelayo nokugula kusengadala amazinga aphezulu ama-amino acid athile. Ukufa kungenzeka phakathi nalezi ziqephu. Ngokwelashwa okuqinile kokudla, izingane sezikhulile zaba ngabantu abadala futhi zingahlala ziphilile.

Lezi zinkinga zingenzeka:

• Ukulimala kwemizwa
• I-Coma
• Ukufa
• Ukukhubazeka kwengqondo

Shayela umhlinzeki wakho wezokunakekelwa kwezempilo uma unomlando womndeni we-MSUD futhi uhlela ukuqala umndeni. Phinda ushayele umhlinzeki wakho ngokushesha uma unengane esanda kuzalwa enezimpawu zesifo somchamo we-maple syrup.

Ukwelulekwa ngofuzo kuphakanyiswa kubantu abafuna ukuba nezingane futhi abanomlando womndeni wesifo somchamo we-maple syrup. Amazwe amaningi manje ahlola zonke izingane ezisanda kuzalwa ngokuhlolwa kwegazi kwe-MSUD.

Uma ukuhlolwa kokuhlolwa kukhombisa ukuthi ingane yakho ingaba ne-MSUD, ukuhlolwa kwegazi okulandelwayo kwamazinga e-amino acid kufanele kwenziwe ngaso leso sikhathi ukuqinisekisa lesi sifo.

MSUD

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IKliegman RM, iSt. Geme JW, iBlum NJ, i-Shah SS, iTasker RC, iWilson KM. Amaphutha ku-metabolism yama-amino acid. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Incwadi kaNelson Yezingane. Umhlaka 21. IPhiladelphia, PA: Elsevier; 2020: isahl. 103.

UMerritt JL, uGallagher RC. Amaphutha azalwa nawo we-carbohydrate, i-ammonia, i-amino acid, ne-organic acid metabolism. Ku: Gleason CA, Juul SE, ama-eds. Izifo zika-Avery Zomntwana osanda kuzalwa. Umhlaka 10. IPhiladelphia, PA: Elsevier; 2018: isahluko 22.