Cabanga ukuthi uma ushintsha inabukeni lomntwana wakho omncane, noma uma ubamba umntwana wakho, ubona iphunga elimnandi nelingavamile. Njengesiraphu ye -maple, noma iphunga elinoshukela . Ngisho noma ungalinaki ekuqaleni, uma leli phunga liqhubeka nokuza, kuyinto evamile kunoma yimuphi umama noma ubaba ukuzizwa esaba kancane. Eqinisweni, lesi yisibonakaliso esiyinhloko nesicacile sesifo esingavamile kodwa esibaluleke kakhulu ukuqaphela isimo sokuqala sesifo esibizwa ngokuthi 'i-Maple Syrup Urine Disease' (MSUD).
Kalula nje, lokhu kuyisifo se-metabolic. Okusho ukuthi, kukhona iphutha enkambisweni eyinkimbinkimbi eguqula ukudla esikudlayo kube amandla. Sonke siyazi ukuthi amaprotheni abaluleke kangakanani emizimbeni yethu. Lawa maprotheni akhiwe ngamabhulokhi amancane abizwa ngokuthi ama-amino acid. Kumuntu one-MSUD, umzimba awukwazi ukuphula kahle izinhlobo ezintathu zama-amino acid, okuyi- leucine, i-isoleucine, ne-valine , bese uwaguqula abe amandla. Lokhu kungenxa yokuthi ama-enzyme adingekayo kule nqubo awakhiqizwa emizimbeni yawo. Ngakho-ke kwenzekani-ke? Lawa ma-amino acid angenakuphuka kanye nemikhiqizo yawo iqala ukuqongelela emzimbeni nasegazini njengobuthi . Lawa ma-toxin angalimaza ubuchopho nezinye izitho zomzimba. Uma engelashwa, lesi simo singaholela ngisho nasekufeni. Ngakho-ke, kubaluleke kakhulu ukuqaphela lokhu.
Kungani kwenzeka isifo esingavamile kangaka?
Isifo somchamo we-maple syrup sisifo esingavamile kakhulu esibangelwa izakhi zofuzo. Emhlabeni wonke, cishe ingane eyodwa kwezingu-185,000 izalwa inalesi simo.
Lokhu kubangelwa izinguquko ezithile ezakhiweni zethu zofuzo. Lezi zinguquko zezakhi zofuzo zivimbela umzimba ekwenzeni ama-enzyme adingekayo ukuze kuqhekeke ama-amino acid amathathu esikhulume ngawo ngaphambili. Lesi yisifo sezakhi zofuzo esiphindaphindayo . Lokhu kusho ukuthi ukuze umntwana abe nalesi sifo, bobabili umama nobaba kumele bazuze ifa lezakhi zofuzo ezinephutha.
Ake sithi wena nomlingani wakho nobabili 'ningabathwali' balesi sakhi sofuzo esinephutha. Lokho kusho ukuthi aninazo izimpawu, kodwa ninesakhi sofuzo esinephutha emzimbeni wenu. Uma kunjalo:
- Kunethuba elingama-25% lokuthi ingane yakho izozalwa ine-MSUD.
- Kunethuba elingu-50% lokuthi ingane yakho izoba 'ngumthwali', njengawe, ongeke abe nezimpawu kodwa ozothwala i-gene.
- Kunethuba elingama-25% lokuthi ingane ngeke izuze leli gciwane nhlobo futhi izoba nempilo enhle.
Ingabe kunezinhlobo ezahlukene zalesi sifo?
Yebo, kunezinhlobo ezine eziyinhloko ze-MSUD, ezihluka ngobukhulu kanye nesikhathi esithathayo ukuze izimpawu zivele.
| Uhlobo lwe-MSUD | Ukucaciswa kanye nezimpawu |
|---|---|
| I-MSUD yakudala | Lolu uhlobo oluvame kakhulu nolubi kakhulu . Izingane ezinalesi simo azikhiqizi nhlobo ama-enzyme adingekayo, noma zikhiqize okuncane kakhulu. Izimpawu zivame ukuvela ezinsukwini ezintathu zokuqala zokuzalwa. |
| I-MSUD Ephakathi | Laba bantu bakhiqiza ama-enzyme amaningi kunohlobo olujwayelekile. Ngakho-ke, izimpawu azizimbi kangako. Izimpawu zivame ukuvela phakathi kwezinyanga ezi-5 neminyaka eyi-7 ubudala. |
| I-MSUD engapheli | Lezi zingane zikhula ngendlela evamile. Izimpawu zivela kuphela uma umzimba ungaphansi kokucindezeleka, njengomkhuhlane noma ukucindezeleka . Ngezinye izikhathi, zibonakala ziphilile ngokuphelele. |
| I-MSUD ephendula i-Thiamine | I-Thiamine iyi-vitamin B1. Le vithamini yandisa umsebenzi wama-enzyme. Izimpawu zingalawulwa uma iziguli ezinalolu hlobo lwesifo zinikezwa imithamo ephezulu ye-thiamine kanye nokudla okukhethekile. |
Yiziphi izimpawu ngaphandle kwephunga lesiraphu ye-maple?
Njengoba sishilo ngaphambili, uphawu olusobala kakhulu iphunga elinuka njenge-maple syrup noma ushukela onsundu. Leli phunga lingavela kumchamo , umjuluko , ngisho ne-earwax .
Kodwa kunezinye izimpawu eziningi ngaphandle kwaleli phunga. Lezi ziyahlukahluka kuye ngohlobo lwesifo kanye nomuntu.
Izimpawu ezinganeni ezisanda kuzalwa (i-Classic MSUD)
Uma zingelashwa, lezi zingane zingase zibonise izimpawu ezifana nalezi:
- Ukungahlaliseki njalo, ukucasuka
- Ubunzima noma ukwenqaba ukuphuza ubisi
- Ukulala ngendlela engavamile noma ukuzizwa ucindezelekile ngaso sonke isikhathi
- Ubunzima bokuphefumula
- Ukuqaqamba kwemisipha noma ukugoba komzimba
- I-Coma
Isexwayiso: Lezi yizimo ezibucayi kakhulu neziphuthumayo. Uma ingane yakho inanoma yiziphi zalezi zimpawu, ungalibali ngisho nomzuzu owodwa bese ubona udokotela ngokushesha noma uyiyise eMnyangweni Wezimo Eziphuthumayo (ETU) wesibhedlela esiseduze.
Izimpawu ezinganeni nakubantu abadala
Ezinhlotsheni eziphakathi nendawo, ezingavamile, nezisabela ku-thiamine, izimpawu zingavela kunoma yimuphi ubudala. Zingavela noma zibe zimbi kakhulu ngezikhathi zomkhuhlane, ukugula, noma ukucindezeleka.
- Ubuhlungu besisu nokuhlanza
- Ukulahlekelwa yisifiso sokudla kanye nokwehla kwesisindo
- Ubuthakathaka bemisipha noma ukulahlekelwa ukulawula lapho uhamba
- Ukunyakaza okungahleliwe
- Inkulumo engaqondakali
- Ukulahlekelwa ukwazi noma ubunzima bokuhlala uphapheme
Ungasithola kanjani lesi sifo?
Emazweni amaningi athuthukile, ukuhlolwa kwezinsana ezisanda kuzalwa kuhlanganisa ukuhlolwa kwe-MSUD. Ngakho-ke, uhlobo olujwayelekile lungabonakala zingakapheli izinsuku ezimbalwa kusukela zizelwe. ESri Lanka, izinsana ezisanda kuzalwa nazo ziyahlolwa izifo ezahlukahlukene. Njengoba lesi sifo singavamile kakhulu, akuzona zonke izinsana ezingahlolwa lesi sifo.
Kodwa-ke, udokotela angase asole lesi simo uma ebona izimpawu zomntwana, ikakhulukazi iphunga elihlukile. Ngemuva kwalokho, kwenziwa ukuhlolwa kwegazi nomchamo okukhethekile ukuqinisekisa ukuxilongwa. Lokhu kuhlolwa kungahlola amazinga aphezulu ama-amino acid ayinkinga egazini nasemchameni. Kwezinye izimo, ukuhlolwa kofuzo nakho kuyasetshenziswa ukuqinisekisa lesi simo.
Yiziphi izindlela zokwelapha? Kungenzeka yini ukuyelapha ngokuphelele?
Umgomo oyinhloko wokwelapha lesi sifo ukulawula amazinga ama-amino acid ayingozi aqongelela emzimbeni.
Ukwelashwa okuyinhloko ukudla okukhethekile okumele kulandelwe impilo yonke.Lokhu kuhilela ukunciphisa ukudla okunamaphrotheni (isib. inyama, inhlanzi, amaqanda, imikhiqizo yobisi, kanye nokunye okusanhlamvu) okunama-amino acid amaningi ayinkinga (i-leucine, i-isoleucine, ne-valine). Ngesikhathi esifanayo, kunezinye izakhamzimba ezidingekayo ekukhuleni, njengempuphu yobisi eklanywe ngokukhethekile kanye nezithasiselo. Lolu hlelo lokudla luqaliswa ngaphansi kokuqashwa okuseduze kukadokotela kanye nochwepheshe wezokudla .
Ezimweni lapho izimpawu zinzima khona, kudingeka ukulaliswa esibhedlela futhi kusetshenziswa ezinye izindlela zokwelapha.
- Nikeza umzimba ukudla okunomsoco okudingekayo ngokunikeza ukudla ngemithambo yegazi (IVs) noma ngamapayipi akhethekile.
- Lawula amazinga e-amino acid egazini ngokunikeza i-glucose noma i-insulin nge-IV.
- Ukuze ususe ngokushesha ubuthi obuqongeleleke egazini, faka igazi ekuhlungweni (indlela efana ne-dialysis).
Ukuphela kokwelashwa okuhlala njalo kwalesi sifo ukufakelwa isibindi. Uma isibindi esivela kumuntu ophilile sitshalwa, isibindi sikhiqiza ama-enzyme adingekayo, okuvumela isiguli ukuba siphile ngendlela evamile, ngaphandle kwemingcele yokudla.
Umlayezo Wokuya Nawe Ekhaya
- I-MSUD iyisifo esingavamile kakhulu, kodwa esiyingozi kakhulu esibangelwa izakhi zofuzo.
- Uma umchamo wengane yakho, umjuluko, noma i-earwax kunuka kamnandi, njenge-maple syrup, kungaba uphawu olukhulu.
- Ukuxilongwa kusenesikhathi kanye nokwelashwa kubalulekile ukuvimbela ukulimala okungapheli ebuchosheni nakwezinye izitho zomzimba.
- Ukwelashwa okuyinhloko ukudla okukhethekile okumele kulandelwe impilo yonke.
- Uma ubona noma yiziphi izimpawu ezishiwo kulesi sihloko, ikakhulukazi kosana olusanda kuzalwa , sicela ubone udokotela wakho ngokushesha. Uma ukuxilongwa kusenesikhathi, umphumela uba ngcono.
Isifo Somchamo We-Maple Syrup, i-MSUD, Izifo Zofuzo, Izifo Zezingane, Izifo Ze-Metabolic, Ama-Amino Acids, Iphunga Lomchamo Wengane
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