Ingabe umzimba noma umchamo wosana lwakho unuka kamnandi ngendlela exakile, njengesiraphu ye-maple? Ungase ucabange ukuthi kuyinto evamile. Kodwa kungaba uphawu lwesimo esibucayi okungafanele singanakwa futhi sidinga ukunakekelwa kwezokwelapha ngokushesha. Lesi simo sibizwa ngokuthi isifo se-maple syrup urine, noma i-MSUD ngamafuphi. Namuhla, sizokhuluma ngaso ngendlela elula neqondakala kalula.
Iyini ngempela isifo somchamo we-maple syrup (MSUD)?
Kalula nje, i-Maple Syrup Urine Disease (MSUD) yisifo sofuzo esiba khona lapho kuzalwa, esihlala impilo yonke, futhi singaba yingozi empilweni uma singelashwa kahle. Kuyisifo sokuphazamiseka kwe-metabolic. Isifo sokuphazamiseka kwe-metabolic singase sizwakale siyinkimbinkimbi kuwe. Kodwa kulula kakhulu. Kusho ukuthi kunenkinga enqubweni lapho umzimba wethu uguqula ukudla esikudlayo kube amandla.
Ku-MSUD, imizimba yethu ayikwazi ukuphula kahle ama-amino acid athile, izakhi zeprotheni, bese iwaguqula abe amandla. Le nkinga yenzeka ngama-amino acid amathathu ikakhulukazi:
- I-Leucine
- I-Isoleucine
- I-Valine
Kubantu abazalwa bene-MSUD, lawa ma-amino acid amathathu awaphulwa kahle emzimbeni, ngakho-ke aqoqana emzimbeni aze abe namazinga anobuthi . Lesi simo esinobuthi siyisibonakaliso esiyinhloko salesi sifo, okuyiphunga lesiraphu ye-maple noma ushukela oshile emchameni , e-earwax, kanye nasejulukweni.
Uma ubona noma yiziphi zalezi zimpawu enganeni yakho, funa usizo lwezokwelapha ngokushesha. Uma ingelashwa ngokushesha, i-MSUD ingaholela ezinkingeni ezinkulu, njengokukhula okulimele, ukukhubazeka kwengqondo, ngisho nokufa.
Yiziphi izinhlobo eziyinhloko ze-MSUD?
I-MSUD ingahlukaniswa ngezinhlobo ezine eziyinhloko. Akuzona zonke izinhlobo ezifanayo. Ezinye zinzima kakhulu, kanti ezinye azinzima kangako.
| Uhlobo lwesifo | Incazelo |
|---|---|
| I-MSUD yakudala | Lolu uhlobo lwe-MSUD olunzima kakhulu noluvame kakhulu. Izimpawu zivame ukuvela ezinsukwini ezintathu zokuqala ngemva kokuzalwa. |
| I-MSUD Ephakathi | Lolu hlobo alubi kakhulu kunohlobo olujwayelekile. Izimpawu zivame ukuvela phakathi kweminyaka eyizinyanga ezi-5 neminyaka eyi-7. |
| I-MSUD engapheli | Izingane ezinalolu hlobo zikhula ngendlela evamile, kodwa izimpawu zivele ngokuzumayo lapho umzimba ubhekene nokutheleleka noma lapho kukhona ukucindezeleka kwengqondo. |
| I-MSUD ephendula i-Thiamine | Lolu uhlobo olukhethekile kakhulu. Lezi ziguli zisabela kahle ekwelashweni ngemithamo ephezulu yevithamini B1 (thiamine). Ngaphezu kwalokho, kudingeka nokulawula ukudla. |
Ingabe lesi sifo sivamile?
Cha. I-MSUD iyisifo esingavamile kakhulu . Emhlabeni wonke, sithinta cishe ingane eyodwa kwezingu-185,000 ezizalwayo.
Kodwa-ke, lesi sifo sivame kakhulu phakathi kwamanye amaqembu ezinhlanga. Lokhu kuvame kakhulu phakathi kwabantu abavela emndenini noma ozalweni olufanayo, okungukuthi, abantu abashada nezihlobo eziseduze. Lokhu kungenxa yokuthi i-gene ebangela lesi sifo ivame kakhulu kuleyo miphakathi.
Ziyini izimpawu ze-MSUD? Ungayibona kanjani isimo esiphuthumayo?
Kubaluleke kakhulu ukuqaphela izimpawu ngoba kuyasiza ukuqala ukwelashwa ngokushesha.
Cabanga ngomama onomntwana osanda kuzalwa oqaphela iphunga elingavamile nelimnandi lapho eshintsha inabukeni lomntwana wakhe noma emgona. Ekuqaleni, ungase ungalinaki. Kodwa ngemva kwezinsuku ezimbili noma ezintathu, umntwana akakwazi ngisho nokuphuza ubisi, ukhala njalo, futhi ubonakala ekhathele. Yilapho-ke lapho kudingeka ucabange ngokushesha ukuthi lokhu akuvamile.
Uma ingelashwa, lesi simo singaqhubekela phambili sibe yinhlekelele ye-metabolic, okuyisimo esiphuthumayo esiyingozi kakhulu.
| Izimpawu zokuqala | Izimpawu Zenkinga Ye-Metabolic |
|---|---|
| Iphunga elimnandi elivela kumchamo , umjuluko, noma i-earwax. | Ukufinyela kwemisipha okungavamile (ikhanda lomntwana, intamo, kanye nomgogodla wakhe ugoba emuva). |
| Ukudinwa, ukozela, kanye nokuphelelwa yimpilo. | Ukuquleka noma ukuxhuzula (ukunyakaza komzimba okungalawuleki). |
| Ukukhala njalo nokungaphumuli. | Ukuhlanza. |
| Ukwenqaba ukudla (ukungaphuzi ubisi). | I-Coma. |
Qaphela: Inkinga ye-metabolic iyisimo esisongela impilo. Uma ubona lezi zimpawu, kufanele uphuthumise ingane yakho esibhedlela (ETU) ngokushesha.
Ngisho nasezinganeni nakubantu abadala abatholakale bene-MSUD, lolu hlobo lwenkinga ye-metabolic lungabangelwa yinto efana nokutheleleka, ingozi, noma ukucindezeleka okukhulu. Ngakho-ke kubalulekile ukuqaphela lokhu njalo.
Kungani lesi sifo sivela?
I-MSUD ibangelwa ukuguquka kwezakhi zofuzo , okuzuzwa kubazali kubantwana.
Kalula nje, imizimba yethu idinga uhlobo olukhethekile lwe-enzyme ukuze ihlukanise ama-amino acid esikhulume ngawo ngaphambili: i-leucine, i-isoleucine, ne-valine. Izakhi zofuzo zethu zisitshela ukuthi senze la ma-enzyme.
Umuntu one-MSUD une-mutation, noma isici, kulezi zakhi zofuzo ezinikeza imiyalelo. Lokhu kubangela:
- I-enzyme efanele kungenzeka ingakhiqizwa nhlobo emzimbeni.
- Noma, kungakhiqizwa ama-enzyme anele .
- Ngezinye izikhathi, noma ngabe kukhiqizwa ama-enzyme, angase angasebenzi kahle .
Kungakhathaliseki ukuthi yisiphi isizathu, okwenzekayo ekugcineni ukuthi lawo ma-amino acid amathathu aqoqana emzimbeni futhi afinyelele amazinga anobuthi.
Lesi sifo sizuzwa kanjani njengefa?
Lokhu kuzuzwe njengefa ngendlela ye-autosomal recessive pattern . Lokhu kuzwakala njengegama eliyinkimbinkimbi, akunjalo? Masikwenze kube lula.
Ukuze ingane ibe nalesi sifo, bobabili umama nobaba kumele babe ngabathwali besakhi sofuzo esinephutha. Umthwali usho ukuthi umuntu unekhophi enhle kanye nekhophi enephutha yesakhi sofuzo emzimbeni wakhe. Abathwali abasitholi lesi sifo. Lokhu kungenxa yokuthi ikhophi enhle yesakhi sofuzo yenza i-enzyme edingekayo.
Kodwa-ke, uma bobabili abazali bengabathwali, ingane ingase ithole i-gene enesici kumama nakubaba. Ingane izoba ne-MSUD kuphela uma zombili izakhi zofuzo ezinesici zizuzwe njengefa.
Yiziphi izinkinga ezingaba khona ngenxa yalesi sifo?
Ubuthi obuqongeleleka emzimbeni bungalimaza izinhlelo eziningana zezitho zethu zomzimba. Uma bungelashwa noma bungaphathwa kahle, izinkinga ezilandelayo zingavela:
- Ukulimala kobuchopho , izinkinga zesimiso sezinzwa, kanye nokubambezeleka kokukhula.
- Ingozi eyengeziwe yezimo zempilo yengqondo njenge-attention deficit hyperactivity disorder (ADHD), ukukhathazeka, kanye nokucindezeleka.
- Ukuncipha kwesisindo samathambo ( i-osteoporosis ), okungabangela ukuthi amathambo aphuke kalula.
- Ukuvuvukala kwe-pancreas ( i-pancreatitis ), ikakhulukazi lapho kunenkinga ye-metabolic.
- Ikhanda elibuhlungu elingapheli elibangelwa ukucindezeleka okukhulu ekhanda.
- Ukuphazamiseka kokunyakaza okufana nokuthuthumela kanye nokufinyela kwemisipha okungalawuleki.
- Ukuquleka kanye nokufa kungabangelwa ukutheleleka, ukucindezeleka, noma ukudla okungenamsoco.
Ungasithola kanjani lesi sifo? (Ukuxilongwa)
I-MSUD yakudala ivame ukutholakala ngesikhathi sokuhlolwa kwezingane ezisanda kuzalwa, okuwukuhlolwa kwegazi.
Ngaphezu kwalokho, ukuhlolwa kungenziwa ngesikhathi sokukhulelwa ukuze kutholakale ukuthi umntwana unalesi sifo yini. Lokhu kungenziwa ngokuthatha isampula encane ye-placenta ( i-chorionic villus sampling ) noma ukuhlola uketshezi lwe-amniotic oluzungeze umntwana ( i-amniocentesis ).
Izingane ezinezinye izinhlobo ze-MSUD zingase zingabonisi izimpawu ebuntwaneni. Izimpawu zingase zingaveli kuze kube yiminyaka eminingana kamuva. Ngaleso sikhathi, udokotela uzoqinisekisa lesi sifo ngokuhlolwa kwegazi nokuhlolwa kofuzo . Futhi, iphunga elimnandi elikhethekile elivela emzimbeni wengane liyinkomba enkulu yesifo.
Yiziphi izindlela zokwelapha i-MSUD?
Nakuba kungekho ikhambi le-MSUD, lingaphathwa kahle futhi impilo evamile ingafinyelelwa. Ukwelashwa kunemigomo emibili eyinhloko:
1. Ukulawula amazinga alawo ma-amino acid amathathu emzimbeni.
2. Nikeza ukwelashwa okuphuthumayo uma kwenzeka inkinga ye-metabolic.
1. Ukudla
Lena yingxenye ebaluleke kakhulu yokuphatha i-MSUD. Isiguli kufanele silandele ukudla okuqinile impilo yaso yonke. Lokho kusho ukunciphisa ukudla okucebile ngamaprotheni. Ngoba lawo ma-amino acid amathathu ayinkinga atholakala kumaprotheni.
| Ukudla okuyinhloko okufanele kukhawulelwe | |
|---|---|
| Imikhiqizo yenyama | Inyama yenkomo, ingulube, inkukhu, inhlanzi. |
| Imikhiqizo yobisi | Ubisi, ushizi, amaqanda. |
| Imifino | Ama-cashew, amakinati, ama-chickpeas, ubhontshisi, ama-lentile. |
Usana olusanda kuzalwa lunikezwa uhlobo olukhethekile lobisi oluyimpuphu olungenawo la ma-amino acid amathathu, kodwa oluqukethe zonke ezinye izakhamzimba.
Kubalulekile ukusebenzisana nochwepheshe wezokudla ukuze wakhe uhlelo lokudla oluphephile nolunempilo olufanele isiguli ngasinye.
2. Ukuqapha njalo
Isiguli esine-MSUD kumele sibe ngaphansi kokuqashwa kwezokwelapha impilo yaso yonke. Ukuhlolwa kwegazi nomchamo kuyadingeka ukuze kuhlolwe njalo amazinga e-amino acid emzimbeni. Ukudla kuyalungiswa ngokusekelwe emiphumeleni.
3. Ukwelashwa okuphuthumayo kwezinkinga ze-metabolic
Uma uba nezimpawu zenkinga ye-metabolic, kufanele ulaliswe esibhedlela ngokushesha. Esibhedlela, ithimba lezokwelapha lingakunikeza ukwelashwa okulandelayo:
- Amazinga e-amino acid alawulwa ngokunikeza i-glucose kanye ne-insulin ngemithambo yegazi (IV).
- Izakhamzimba ezidingekayo, kodwa ezingenangozi, zinikezwa umzimba ngepayipi le-nasogastric noma i-IV.
- I-Hemodialysis yenziwa ukuze kususwe izinto ezinobuthi egazini.
- Izinkinga ezifana nokuvuvukala kobuchopho zihlolwa njalo futhi kunikezwa ukwelashwa okudingekayo.
Ingabe lesi sifo singalapheka ngokufakelwa isibindi?
Yebo. Leli yithemba elihle kakhulu leziguli ze-MSUD.I-MSUD yakudala ingelapheka ngempumelelo ngokufakelwa isibindi.
Isizathu salokhu ukuthi i-enzyme ephula ama-amino acid ayinkinga ikhiqizwa kakhulu yisibindi. Ngakho-ke lapho isibindi esinempilo sitshalwa, leso sibindi sikhiqiza i-enzyme edingekayo. Ngemva kwalokho, isiguli singaphila impilo evamile ngaphandle kwemingcele yokudla noma izimpawu.
Kodwa-ke, ukufakelwa isibindi kuwukuhlinzwa okukhulu. Kunezingozi. Kudinga futhi imithi yokucindezela amasosha omzimba impilo yonke ukuvimbela umzimba ekwenqabeni isibindi esisha. Kodwa-ke, le ndlela ilethe abantu abaningi imiphumela engcono kunokuhlala ne-MSUD.
Ingabe ikhona indlela yokuvimbela lesi sifo?
Ngenxa yokuthi i-MSUD iyisifo esibangelwa ufuzo, ayinakuvinjelwa ngokuphelele. Kodwa-ke, ingozi yokuthi ingane ithole lesi sifo ingancishiswa.
Uma othile emndenini wakho ene-MSUD, kubalulekile ukukhuluma nodokotela wakho ngakho ngaphambi kokuba nibe nomntwana. Wena nomlingani wakho ningathola ukuhlolwa kofuzo ukuze nibone ukuthi ningabathwali yini. Uma nobabili ningabathwali, ningakhuluma nomeluleki wezakhi zofuzo ngengozi yakho yokudlulisela lesi sifo enganeni yakho nokuthi yiziphi izinyathelo ongazithatha ukuze usivimbele.
Umlayezo Wokuya Nawe Ekhaya
- Uma umchamo wengane yakho, umjuluko, noma i-earwax kunuka njenge-maple syrup, ungalokothi ukushaye indiva. Kungaba uphawu olukhulu lwesixwayiso se-MSUD.
- I-MSUD yisimo esihlala isikhathi eside esidinga ukudla okunqunyelwe amaprotheni kanye nokubhekwa njalo kwezokwelapha ukuze kulawulwe.
- Uma ingane yakho ibonisa izimpawu zokuxhuzula, ukozela ngokweqile, noma ukuhlanza, kungaba "inkinga ye-metabolic." Lesi yisimo esiphuthumayo. Yisa ingane yakho ekamelweni lezimo eziphuthumayo esibhedlela (ETU) ngokushesha.
- Ukuxilongwa kusenesikhathi kanye nokwelashwa kusenesikhathi kungavimbela izinkinga ezinkulu futhi kunikeze ingane ithuba lokuphila impilo enempilo.
- Lesi sifo singelapheka ngempumelelo ngokufakelwa isibindi, ongaxoxa ngaso nodokotela wakho.
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