Igama elithi "imetabolism", ngokwemeko yokungaqhelekanga kwamanzi, kuchaza isicwangciso seenkqubo zokucoca izondlo ezisisiseko - iiprotheni, amafutha kunye ne-carbohydrates. Kule nqaku, ukuphulwa komlinganiselo we-carbohydrate kunye neeprotheni ziyahlolwa.
I-carbohydrate
I-carbohydrate yimiloleksi equkethe i-carbon, i-hydrogen kunye ne-oxygen. Kukho i-carbohydrate elula kwaye enzima. I-carbohydrate elula imelwa ngutyiksi, olwahlula kwi-mono- ne-disaccharides. Eyona nto ibaluleke kakhulu kwi-carbohydrates elula i-glucose monosaccharide. I-carbohydrates edibeneyo, okanye i-polysaccharides, njenge-starch, inesakhiwo esiyinkimbinkimbi. Ukuxhamla kwiphepha lokutya, zonke i-carbohydrates ezifake ukutya kufuneka zihlulwe kwiishukela ezilula.
Iiprotheni
Iiprotheni zinama-molecule amakhulu aqukethe iintambo ze-amino acid. Iprotheyini nganye inesakhiwo esiyingqayizivele, enokulandelelana kwayo kwe-amino acid. Ngokuqhelekileyo, kwinkqubo ye-metabolism, iamolekyuli ezinkulu zeeprotheyini ziyahlukana zibe zi-amino acids. Ezi zi-amino acids zisetyenziswe ngumzimba njengomthombo wamandla okanye zibandakanyeka ekuhlanganiseni kwezinye iiprotheni.
Iinkqubo ze-enzyme
Inkqubo yokwahlula i-carbohydrates kunye neeprotheni incike ekusebenzeni ngokupheleleyo kweenkqubo ze-enzyme zomzimba. Ngenxa yokuntuleka kwe-enzyme enye, inkqubo yokuxilisa umzimba iyaphazanyiswa, oku kubonakalayo, umzekelo, kwiintlungu zesifo somzimba. Kukho ezininzi iintlobo zokuphazamiseka kwamagciwane, kodwa azinqabile.
Heredity
Izifo ezibangelwa yintsholongwane zengqungquthela zibhekisela kwizifo ze-genetic kwaye zidla ngokuba nefa kwiindlela zokuzimela. Ngethuba elifanayo ukuphuhliswa kwesifo kubalulekile ukuba umntwana athathe iimbumba ezimbini eziphosakeleyo: enye evela kubaba kunye nenye evela kumama.
Diagnostics
Izifo zengxubevange zifumaneke kwixesha lokubeleka, emva kokuzalwa okanye abantwana abadala. Kunokwenzeka ukukrokrela izifo zeli qela ngaphambi kokuzalwa komntwana, ukuba intsapho yayineziganeko zokuphazamiseka kwemethambo.
Iimpawu kwiintsana
Iintsana ezinokukhubazeka kwesifo sokuzalwa komzimba zibukeka zibuhlungu kwiiveki zokuqala zobomi. Ngokuqhelekileyo abayisondli kakuhle, balele baze baceke, baze bafike kwi-coma. Kwezinye iimeko, ukuxhalaba kukhula. Le miqondiso ayifumanekanga kweli qela lezifo. Isici esibonisa izigulane ezineengxaki zesifo sokuzalwa komzimba yintsholongwane engavamile yesikhumba.
Iimpawu ekudala
Ukuba i-disorder ifunyanwe kwixesha elidala, mhlawumbi umntwana unesifo esifanelekileyo sesifo. Abantwana abanjalo baneempawu ezifanayo zesifo, njengasebuntwaneni, kunye nokuphulukiswa kwengqondo kunye nophuhliso lomzimba. Ezinye iimpawu ziquka ukuhlanza, ukudibanisa kunye ne-coma. Ukuphambuka okukhulu kwe-metabolism ye-carbohydrate yi-galactosemia kunye ne-glycogenoses. Ezi zifo ezinempawu ezifanayo zihambelana nesiphene kwi-enzymes. Unyango lubandakanya ukutyunjwa kwesondlo esikhethekileyo. I-Galactosemia yintlupheko yesifa se-carbohydrates metabolism. I-Monosaccharide i-galactose inxalenye ye-lactose - i-carbohydrates eyinxalenye yobisi lwebele nobisi.
Impembelelo yokusilela kwe-enzyme emzimbeni
Nge-galactosemia, kukho ukusilela kwe-enzyme eyintloko ye-metabolism-galactose-1-phosphaturidyl transferase. Ukungabikho kwayo, inkqubo yokuguqula i-galactose kwi-glucose (umthombo omkhulu wamandla omzimba) uphazamiseka. Abantwana abane-galactosemia banomgangatho ophezulu we-galactose egazini kunye nokuthambekela ekunciphiseni okubalulekileyo kwinqanaba le-glucose. Esi sifo sinokufumana ilifa kumama kunye noyise.
Iimpawu
Abantwana abane-galactosemia ekuzalweni abafani nontanga enempilo, kodwa imeko yabo iqala ukugqithisa emva kokuqala kokuncelisa (isifuba okanye ibhotile). Ezi zilandelayo zibonakaliso:
- i-jaundice (isikhumba kunye ne-sclera zamehlo zifumana umbala ophuzi);
- ukwandiswa kwesibindi;
- ukungazinzi.
Unyango kunye nokugxekwa
Unyango lubandakanya ukutyunjwa kwe-lactose-free and gluten-free-diet. Uphulo lokuqala luya kunceda ukukhusela ukuphulukana kwesibindi esingapheliyo kunye nezinye iingxaki, ezifana nokulibaziseka kwentuthuko kunye ne-cataract. Nangona kunjalo, nxamnye nokuthobela ukutya okufunekayo ukususela kumncinane, abantwana abane-galactosemia bafumana ubunzima bokufunda. I-Glycogen yindlela enkulu yokugcinwa kwamandla emzimbeni womntu. I-molecule yayo eninzi iqulethe i-molecule ye-glucose edibeneyo. Xa umzimba udinga i-glucose njengomthombo wamandla, ukhishwa kwi-glycogen phantsi kwefuthe lamahomoni athile. Amasheya e-glycogen atholakala kwiimisipha kunye nesibindi.
Iimpazamo ze-enzymatic
Nge-glycogenoses kukho ukuphulwa kweenkqubo zokugcinwa kwe-glycogen, ekhokelela ekungabikho kwezinto zokugcina i-glucose. Zininzi iintlobo zeziphene kwiinkqubo ze-enzyme ezikhokelela ekuphuhliseni i-glycogenases. Ngokuxhomekeke kwi-synthesis ye-enzyme eyahlukileyo, isifo singahamba kunye
umonakalo kunye nobuthathaka bemisipha, umonakalo kwisibindi okanye entliziyweni. Kubantwana abanjalo, kunokwenzeka ukuba kuncitshiswe kakhulu kwi-blood glucose (i-hypoglycemia).
Amacebo okunyango
Abantwana abane-glycogenosis bafuna unyango oluqhubekayo lweeyure ezingama-24 ukukhusela ukunciphisa okubalulekileyo kwizinga le-glucose yegazi. Kumele ukuba zondliwe. Iintsana ezingenako ukugwinya ukutya zixhaswa nge-tube yogundas (ityhubhu efakwe kwisisu ngeempumlo). Isitampu se-Nasogastric sinokufuneka kwakhona kubantwana abadinga ukutya kwe-carbohydrate ngexesha lokulala kunye nomkhwa wokunciphisa i-glucose yegazi. Abantwana asebekhulile banqunywe unyango lokutya kunye nesitashi (i-carbohydrate edibeneyo eyenziwe ngamashukela ahlukahlukeneyo). Oku kuqinisekisa ukuhamba kwe-glucose egazini kwigazi kunye nokugcinwa kwinqanaba layo kwinqanaba. Ukungalunganga kwama-congenital of protein metabolism ayinqabile, kodwa banokuba nempembelelo ebalulekileyo kumzimba womntwana. Ezona ziqhelekileyo zezi zinto zi-phenylketonuria, i-tyrosinemia, homocystinuria kunye ne-valinoleucinuria. Zininzi iintlobo zeengxaki zokuzalwa komzimba weprothem metabolism. Ezona ziqhelekileyo zezi zinto zi-phenylketonuria, i-tyrosinemia, homocystinuria kunye ne-valinoleucinuria.
Phenylketonuria
I-Phenylketonuria isifo esibonakaliswa kukusilela kwe-phenylal-ninhydroxylase enzyme. Ukuphindaphinda kwe-phenylketonuria kuvela ku-1:10 000 ukuya ku-1:20 000 ukuzalwa ngokuzalwa. Ngenye yeengxaki ezixhaphakileyo eziqhelekileyo, kodwa iziganeko zalo ziphantsi ngokwaneleyo.
Ukungasebenzi
Ukuntuleka kwe-enzyme kwi phenylketonuria kubangela ukwanda kwinqanaba legazi le-amino acid phenylalanine kunye ne-metabolites yayo-phenylketones. Ziyabonakala kumchamo wesigulane (ngoko igama lesi sifo). I-Phenylalanine ifumaneka nangobisi lwebele, nangona kunjalo, ukuze izinga layo legazi kwigazi lomntwana likhuphuke kwizinga elibalulekileyo kwikliniki, kuthatha iintsuku ezine ukuya ezintlanu zokuncelisa. Kwamazwe amaninzi, iintsana zihlolwe ukuba le ntsholongwane ngeveki emva kokuzalwa. Isampuli yegazi ithathwa kwisithende somntwana ekuhlaziywa kwebhubhoratri.
Dietotherapy
Nangona ukugcina izinga eliphantsi le-phenylalanine egazini, umntwana unokukhula kwaye akhule. Ukutya ngaphandle kwe phenylalanine yindlela ekhethiweyo yokonyango, kwaye kufuneka ilandelwe kulo lonke ubomi. Ukungabikho kwonyango, aba bantwana bahlakulela uhlobo olunzulu lokuhluthwa, okubizwa ngokuba yi-infasible spasms, ukulibaziseka ekuphuculeni ngokomzimba nangokwengqondo. Bafumana i-IQ ephantsi kakhulu kunontanga yabo, nangona iqondo lokufunda lingahluka. I-Tyrosinemia yisifo esingavamile. Njengazo ezininzi iziphazamiso zeprotheni ye-protebolism, ivela xa umntwana edlula i-genetic defective kubazali bobabini. I-Tyrosinemia iyenzeka malunga namaxesha angama-10 ngaphantsi kwe-phenylketonuria. Esi sifo sibonakaliswe kukusilela kwe-enzyme ye-fumaryl acetoacetase kwaye ihamba kunye nokwanda kwinqanaba le-amino acid tyrosine kunye ne-metabolites yayo egazini.
Iimpawu
Kwizigulane ezine-tyrosinemia, u-renal no-inpower hepatic. Ngokukhawuleza kubonakaliswa kwiintsana ezinesifo esibi. Iifom ezincinci zibonakalisa ukukhubazeka okungapheliyo komsebenzi wesibindi kunye nentso. Uninzi lwabantwana abane-tyrosinemia ngokukhawuleza bahlakulele i-hepatoma (isifo se-tumor).
Unyango
Ukutya okonyango kunye nokuthintela kwemveliso equkethe i-tyrosine, kunye nokusetyenziswa kwezixhobo zokutya kuphucula umfanekiso wegazi lomguli. Nangona kunjalo, ukutya akuthinteli ukulimala kwesibindi. Kwiimeko ezininzi, izigulana zifuna ukufakelwa kwesibindi. Kuze kube kutshanje, lo msebenzi wawuphela yindlela yokusebenza yonyango. Nangona kunjalo, amayeza okwakhiwa ngoku angakhusela ukuphuhliswa kwesibindi kunye neengxaki zesibindi. I-Homocystinuria yintlupheko enamandla kakhulu, ebonakaliswe ebusaneni. Esi sifo sibonakala ngokusilela kwe-cystathione synthetase enzyme. I-Homocystinuria inqabile kakhulu - malunga ne-1 kuma-350,000 iintsana.
Iimpawu
Abantwana abane-homocystinuria banakho ukuba:
- ukuphulwa kophuhliso lomzimba;
- ukungabikho komzimba;
- ukulahlwa kwengqondo nge-IQ ephantsi;
- ukuxhalabisa;
- ukuchithwa (i-subluxation) ye-lens yeso;
- ubude obude ngokungaqhelekanga kunye neminwe ende.
I-Homocystinuria ihambelana nomngcipheko ophezulu we-myocardial infarction kunye nesifo. Kukho nokuba kubekho uphawu oluthethayo lokuhamba (okubizwa ngokuba yi-Walk of Charlie Chaplin). Abanye abantwana bahlaselwa yintlungu. Phantse kwisiqingatha sezigulane kunye ne-homocystinuria isabela kakuhle kwi-vitamin B (pyridoxine) unyango, okwandisa umsebenzi we-enzyme ephosakeleyo. Le vithamini ifumaneka kwinyama, intlanzi kunye neengqolowa ezipheleleyo, kodwa zifuneka kwizinga eliphezulu kakhulu kunokuba zifumaneke ngokutya. Ukuba unyango nge-vitamin B alusebenzi, ukutya kunye nokuthintela kweemveliso eziqukethe i-amino acid methionine kunye nomxholo okongezelelweyo wenye i-amino acid, i-cysteine, imiselwe. I-Valinooleucinuria yintlungu engaqhelekanga kwi-metabolism yamino acid. Kwenzeka kwimeko e-1 ngamawaka angama-200,000. Esi sifo sibonakaliswe ukwanda kwinqanaba le-amino acids kunye nechungechunge le-branched.
Iimpawu
Esi sifo sinempawu ezininzi. Isici sawo sahlukileyo sivumba le-maple isiraphu yomchamo. I-Valynoleucinuria ibonakaliswe yimpawu ezilandelayo: ukubonakala kabuhlungu komntwana; zixhala; ukusabela kwegazi okungakumbi kunokuqhelekileyo, ukutyekela ekunciphiseni okubalulekileyo kwimizinga yeshukela yegazi. Ukuba ukuxilongwa kuyenziwa ngosuku lokuqala lobomi, ukuhlaziya okulungileyo kukunokwenzeka. Nangona kunjalo, abaninzi abantwana abane-valinoleucinuria bafa beselula. Abasindileyo banokungaqhelekanga ekuphuhlisweni kwengqondo kwaye bahlala befumana ubunzima bokufunda.