Igama elithi "umzimba", esimweni sokungafani kahle kwemithi, kusho ukusekelwa kwezinqubo zokuqeda izakhi eziyisisekelo - amaprotheni, amafutha kanye nama-carbohydrate. Kulesi sihloko, ukuphulwa komzimba we-carbohydrate namaprotheni kuhlolwa.
Ama-carbohydrate
Ama-carbohydrate ama-molecule ahlanganisa i-carbon, i-hydrogen ne-oxygen. Kukhona ama-carbohydrate alula futhi anzima. I-carbohydrate elula imelwe yi-ushukela, ehlukaniswe ibe yi-mono- ne-disaccharides. Okubaluleke kakhulu kwe-carbohydrate elula yi-glucose monosaccharide. Ama-carbohydrate aqinile, noma ama-polysaccharides, afana nesitashi, abe nesakhiwo esiyinkimbinkimbi. Ukuze ufinyelele emgqeni wokugaya, wonke ama-carbohydrates angena ekudleni kufanele ahlukaniswe ushukela olula.
Amaprotheni
Ama-proteine ama-molecule amakhulu aqukethe amaketanga ama-amino acids. Iprotheyini ngayinye inesakhiwo esiyingqayizivele, sinokulandelana kwayo kwamamino acid. Ngokuvamile, lapho kusetshenzwa umzimba, ama-molecule amakhulu amaprotheni ahlukaniswa ngamakhemikhali awo amino acid. Lawa ma-amino acids asetshenziswa ngumzimba njengomthombo wamandla noma abandakanyeka ekuhlanganiseni kwamanye amaprotheni.
Izinhlelo ze-enzyme
Inqubo yokuhlukanisa ama-carbohydrate namaprotheni kuncike ekusebenzeni okugcwele kwezinhlelo ze-enzyme zomzimba. Ngokuntuleka kwe-enzyme eyodwa, inqubo ye-metabolic iphazamiseka, okubonwayo, isibonelo, ezinkingeni zokuzalwa komzimba. Kunezinhlobo eziningi zezinkinga zemithi, kodwa konke akuvamile.
Heredity
Izifo ezibangelwa yi-congenital disabella zibhekisela ezifweni zofuzo futhi ngokuvamile zizuze njengefa ngokwezindlela zokuzimela ngokweqile. Ngesikhathi esifanayo ekuthuthukiseni lesi sifo kudingekile ukuthi ingane ithola izakhi zofuzo ezimbili ezinesici: eyodwa evela kubaba nomunye kusuka kumama.
Ukuhlonza
Izinkinga zemetabolic zingatholakala ngesikhathi sokubeletha, ngokushesha ngemva kokuzalwa noma ezinganeni ezindala. Kungenzeka ukusola izifo zaleli qembu ngaphambi kokuzalwa kwengane, uma umndeni unezinkinga zokuphazamiseka kwemithi.
Izimpawu ezisanda kuzalwa
Izinsana ezinenkinga yokuzalwa komzimba ngokuvamile zibukeka zibuhlungu kakade emavikini okuqala okuphila. Abavame ukuphuza kahle, balele futhi bacebile, ngisho nase-coma. Kwezinye izimo, ukuqubuka kuyakhula. Lezi zibonakaliso azisho ngqo kuleli qembu lezifo. Isici sesici seziguli ezinezinkinga zesifo somzimba esivela esibhedlela kungumunwe ongavamile wesikhumba.
Izimpawu ekudala
Uma lesi sifo sitholakale sisekhulile, kungenzeka ukuthi ingane inezinga eliphansi lesifo. Izingane ezinjalo zinezibonakaliso ezifanayo zesifo, njengasezinsana, kanye nokulimala kwengqondo nokuthuthukiswa ngokomzimba. Ezinye izimpawu zihlanganisa ukuhlanza, ukuxubana kanye ne-coma. Ukuphulwa okukhulu kwe-metabolism ye-carbohydrate yi-galactosemia ne-glycogenoses. Lezi zifo ezinezimpawu ezifanayo zihlobene nesici ekuqaliseni kwama-enzyme. Ukwelashwa kuhlanganisa ukuqokwa kokudla okukhethekile. I-Galactosemia iyinkinga yokuzalwa ye-carbohydrate metabolism. I-monosaccharide galactose iyingxenye ye-lactose - ingxenye enkulu ye-carbohydrate ingxenye yobisi lwebele nobisi.
Umthelela wokuntuleka kwe-enzyme emzimbeni
Nge-galactosemia, kunokuntuleka kwe-enzyme eyinhloko ye-metabolism - galactose-1-phosphaturidyl transferase. Uma engekho, inqubo yokuguqula i-galactose ku-glucose (umthombo omkhulu wamandla omzimba) uphazamiseka. Izingane ezine-galactosemia zinezinga eliphezulu le-galactose egazini kanye nokuthambekela ekunciphiseni okukhulu kwamazinga e-glucose. Lesi sifo singathola ifa kusukela kokubili umama nobaba.
Izimpawu
Izingane ezine-galactosemia ekuzalweni azifani neontanga enempilo, kodwa isimo sabo siqala ukuqhubeka sibi kakhulu ngemva kokuqala kokudla (isifuba noma ibhodlela). Izimpawu ezilandelayo zivela:
- i-jaundice (isikhumba ne-sclera yamehlo athola umbala ophuzi);
- ukwandisa kwesibindi;
- ukungakwazi ukusebenza kahle.
Ukwelashwa nokubikezela
Ukwelashwa kuhlanganisa ukuqokwa kwe-lactose-free ne gluten-free-free. Ukwelashwa kwasekuqaleni kuzosiza ekuvimbeleni ukuthuthukiswa kwesibindi esingapheli nezinye izinkinga, njengokubambezeleka kokuthuthukiswa kanye ne-cataract. Noma kunjalo, naphezu kokunamathela ekudleni okudingekayo kusukela esemncane, izingane ezine-galactosemia zivame ukuba nezinkinga zokufunda. I-Glycogen yiyona ndlela esemqoka yokugcina amandla emzimbeni womuntu. I-molecule yayo enkulu inezinhlayiyana ezincane ze-glucose ezihlanganisiwe ndawonye. Uma umzimba udinga i-glucose njengomthombo wamandla, ikhishwa ku-glycogen ngaphansi kwethonya lamahomoni athile. Amasheya we-glycogen atholakala emisipha nasesibindi.
Amaphutha enzymatic
Nge-glycogenoses kukhona ukwephulwa kwezinqubo zesitoreji se-glycogen, okuholela ekusweleni kwezitolo ze-glucose. Kunezinhlobo eziningana zeziphene ezinhlelo ze-enzyme eziholela ekuthuthukiseni kwe-glycogenases. Kuye ngokuthi i-enzyme iphihliwe, lesi sifo singahambisana nayo
umonakalo kanye nobuthakathaka bemisipha, umonakalo esibindi noma senhliziyo. Ezinganeni ezinjalo, kungenzeka ukuthi kunciphise okubalulekile ekuguleni kwegazi (hypoglycemia).
Amacebo wokwelapha
Izingane ezine-glycogenosis zidinga ukwelashwa okuqhubekayo kwamahora angu-24 ukuvimbela ukuncipha okubalulekile emazingeni egazi le-glucose. Kumele zidle. Izinsana ezingenakuvame ukugwinya ukudla zidla nge-tube nasogastric (ithubhu elifakwe esiswini ngekhaleni). I-nasogastric tube ingadinga futhi kubantwana abadinga ukudla kwe-carbohydrate ngesikhathi belele ngokuthambekela kwezinga elingaphansi kwegazi le-glucose. Izingane ezindala zinqunywe ukwelashwa kokudla nge-starch yamabele (i-carbohydrate eyinkimbinkimbi elineziqu ezihlukahlukene zeshukela). Lokhu kuqinisekisa ukuhamba kancane kwe-glucose egazini nokugcinwa kwezinga layo ngaphakathi kwendabuko. Ukukhubazeka kwama-protein wesifo samaprotheni akuvamile, kepha kungaba nomthelela omkhulu emzimbeni wengane. Okuvamile kulezi zi-phenylketonuria, i-tyrosinemia, i-homocystinuria ne-valinoleucinuria. Kunezinhlobo eziningi zokuphazamiseka kokubeletha kwamaprotheni umzimba. Okuvamile kulezi zi-phenylketonuria, i-tyrosinemia, i-homocystinuria ne-valinoleucinuria.
Phenylketonuria
I-Phenylketonuria yisifo esibonakala ukungabi khona kwe-phenylal-ninhydroxylase enzyme. Ukuvama kwesenzakalo se-phenylketonuria kuvela ku-1:10 000 kuya ku-1:20 000 ukuzalwa okuphilayo. Ngenye yezinkinga ezivamile kakhulu eziphathelene nomzimba, kodwa izimo zayo ziphansi ngokwanele.
Ukungaqiniseki kwe-enzyme
Ukuntuleka kwe-enzyme ku phenylketonuria kubangela ukwanda kwezinga legazi le-amino acid phenylalanine kanye nama-metabolites alo - phenylketones. Zivela emcinini wesiguli (ngakho igama lesifo). I-Phenylalanine itholakala nobisi lwebele, kodwa, ukuze izinga layo legazi egazini lomntwana likhuphukele ezingeni elibalulekile emitholampilo, kuthatha izinsuku ezine kuya kwezinhlanu zokuncelisa. Emazweni amaningi, izinsana zihlolwe ngalezi zifo ngesonto ngemuva kokuzalwa. Isampula yegazi ithathwe esithendeni somntwana ekuhlaziyweni kwelabhoratri.
I-Dietotherapy
Ngenkathi igcina izinga eliphansi le-phenylalanine egazini, ingane ingavame ukukhula nokuthuthukisa. Ukudla ngaphandle kwe-phenylalanine kuyindlela yokwelashwa ekhethiwe, futhi kufanele ilandelwe kuyo yonke impilo. Uma kungabikho ukwelashwa, lawa bantwana ahlakulela isimo esinamandla sokuphuza, ukubizwa okuncane okuthiwa yi-infantile, ukubambezeleka kokuthuthukiswa ngokomzimba nangokwengqondo. Bane-IQ ephansi kunabo ontanga, nakuba izinga lokufunda lingahluka. I-Tyrosinemia yisifo esingavamile. Njengeningi lezinkinga zeprothemikhali yegazi, iqala lapho ingane idlula izakhi zofuzo ezingaphelele kubo bobabili abazali. I-tyrosinemia iyenzeka izikhathi ezingaba ngu-10 njalo kune-phenylketonuria. Lesi sifo sibonakala ukungabi nalutho kwe-enzyme ye-fumaryl acetoacetase futhi ihambisana nokwanda kwezinga le-amino acid tyrosine kanye nama-metabolites alo egazini.
Izimpawu
Ezigulini ezine-tyrosinemia, ukungaqali kahle kwe-renal no-hepatic kuyaqala. Ngokushesha ngokushesha kubonakala ezinganeni ezinesifo esibi. Amafomu aphansi kakhulu abhekene nokukhubazeka okungapheli kokusebenza kwesibindi nezinso. Iningi lezingane ezine-tyrosinemia kamuva lihlakulela i-hepatoma (isifo senhliziyo).
Ukwelapha
Ukudla kokwelashwa nokuvinjelwa kwemikhiqizo equkethe i-tyrosine, nokusetshenziswa kwezithasiselo zokudla kuthuthukisa isithombe segazi lesiguli. Nokho, ukudla akukwazi ukuvimbela ukulimala kwesibindi. Ezimweni eziningi, iziguli zidinga ukufakelwa kwesibindi. Kuze kube yamuva, lo msebenzi wawuwukuphela kwendlela yokwelashwa ephumelelayo. Kodwa-ke, imithi ithuthukiswa okwamanje engavimbela ukuthuthukiswa kwesibindi sokuhluleka kanye nezicubu zesibindi. I-Homocystinuria iyinkimbinkimbi enkulu yemetaboli, ebonakaliswe esemncane. Lesi sifo sibonakala ukungabi khona kwe-cystathione synthetase enzyme. I-Homocystinuria iyinto engavamile kakhulu - cishe ku-1 ku-350,000 amantana.
Izici
Izingane ezine-homocystinuria zingase zibe nalezi:
- ukwephula ukuthuthukiswa ngokomzimba;
- ukungabi nesisindo somzimba;
- Ukuphuza kwengqondo nge-IQ ephansi;
- ukuxhuma ukuxubha;
- ukuhlukanisa (i-subluxation) ye-lens iso;
- Isiqu esidala esingavamile neminwe ende.
I-Homocystinuria ihambisana nenengozi yokwanda kwe-infarction ye-myocardial ne-stroke. Kukhona futhi okungenzeka kube nokuziqhenya okuphawulekayo (okubizwa ngokuthi ukuhamba kukaCharlie Chaplin). Ezinye izingane zithola ukuhlukunyezwa kwesithuthwane. Cishe isigamu seziguli ezine-homocystinuria siphendula kahle ukwelashwa kwe-vitamin B (pyridoxine), okwandisa umsebenzi we-enzyme engaphelele. Le vithamini itholakala enyameni, enhlanzi nasezinhlahleni ezigcwele, kodwa kuyadingeka kakhulu ekudleni okungaphezulu kakhulu kunokutholakala nokudla. Uma ukwelapha nge-vitamin B kungasebenzi, ukudla nokuvinjelwa kwemikhiqizo equkethe i-amino acid methionine nokuqukethwe okwandisiwe kwesinye i-amino acid, i-cysteine, inqunyiwe. I-Valinooleucinuria iyisifo esingajwayelekile lapho kutholakala khona ama-amino acids. Kwenzeka ku-1 icala ngamantombazane angama-200,000. Lesi sifo sibheke ukwanda kwezinga lama-amino acids nge-chain chain.
Izimpawu
Lesi sifo sinempawu eziningi. Isici sawo esivela yiphunga le-maple isiraphu yomchamo. I-Valynoleucinuria ibhekene nalezi zimpawu ezilandelayo: ukubukeka kwengane ebuhlungu; ukuxubha; ukusabela kwegazi okunamandla kunokuvamile, ukuthambekela ekunciphiseni okunciphisa amazinga kashukela egazini. Uma ukuxilongwa kwenziwa ngosuku lokuqala lokuphila, ukubikezelwa okuhle kunokwenzeka. Noma kunjalo, izingane eziningi ezine-valinoleucinuria ziyafa zisencane. Abasinda bangase babe nokungajwayelekile ekuthuthukiseni ubuchopho futhi bavame ukuzwa ubunzima bokufunda.