Mawu akuti "kagayidwe kagayidwe kake", kamene kamakhala kosavuta kachakudya, amatanthawuza njira yowonongeka kwa zakudya zopatsa thanzi - mapuloteni, mafuta ndi chakudya. M'nkhaniyi, kuonongeka kwa kapangidwe kake ka zakudya ndi mapuloteni kumafufuzidwa.
Zakudya
Zakudya zimakhala ndi mamolekyu okhala ndi mpweya, hydrogen ndi oksijeni. Pali zakudya zophweka komanso zovuta. Zakudya zophweka zimayimiridwa ndi shuga, zomwe zimagawidwa mono- ndi disaccharides. Chofunika kwambiri pa zakudya zophweka ndi shuga monosaccharide. Zakudya zomveka, kapena polysaccharides, monga wowuma, zimakhala ndi zovuta zambiri. Kuti adziwe m'magazi, zakudya zonse zomwe zimalowa mu chakudya zimagawanika ndi shuga zosavuta.
Mapuloteni
Mapuloteni ali ndi mamolekyu aakulu omwe ali ndi unyolo wa amino acid. Mapuloteni aliwonse ali ndi mawonekedwe apadera, okhala ndi zigawo zake zokha za amino acid. Kawirikawiri, pakagwiritsa ntchito kagayidwe kameneka, maselo akuluakulu a mapuloteni amagawanika kukhala amino acid. Izi ndi amino acid zimagwiritsidwa ntchito ndi thupi ngati magwero amphamvu kapena zimagwiritsidwa ntchito pophatikiza mapuloteni ena.
Matenda a enzyme
Njira yogawanitsa chakudya ndi mapuloteni amadalira ntchito zonse za thupi. Ndi kusowa kwa puloteni umodzi, njira yamagetsi imasokonezeka, zomwe zimawonedwa, mwachitsanzo, mu matenda okhudzana ndi kagayidwe kathu. Pali mitundu yambiri ya matenda osokoneza bongo, koma onse ndi osowa.
Ukhondo
Matenda osokoneza bongo amatanthauza matenda opatsirana pogonana ndipo nthawi zambiri amachokera ku autosomal. Pa nthawi imodzimodziyo kuti chitukuko cha nthendayi chikhale chofunikira, mwanayo alandire majeremusi awiri osalongosola: imodzi kuchokera kwa bambo ndi imodzi kuchokera kwa mayi.
Zosokoneza
Matenda amtunduwu amatha kupezeka pakapita nthawi, atangobereka kapena atakula. N'zotheka kukayikira matenda a gululi mwana asanabadwe, ngati banja liri ndi vuto la kusokoneza thupi.
Zisonyezo mwa ana obadwa
Makanda omwe ali ndi matenda opatsirana pogonana amakhala ovuta kale m'masabata oyambirira a moyo. Nthaŵi zambiri samayamwa bwino, ali ogona ndi olusa, ngakhale ku coma. Nthaŵi zina, zimakhala zowawa. Zizindikiro izi sizodziwika kwa matendawa. Chikhalidwe cha odwala omwe ali ndi matenda opatsirana pogonana ndi fungo losazolowereka la khungu.
Zizindikiro mu ukalamba
Ngati matendawa amapezeka atakalamba, ndiye kuti mwanayo ali ndi matenda ochepa. Ana oterewa ali ndi zizindikiro zofanana za matendawa, monga adakali aang'ono, komanso kuchepa kwa maganizo ndi chitukuko. Zizindikiro zina zimaphatikizapo kusanza, kugwedezeka ndi chifuwa. Kuphwanya kwakukulu kwa kagayidwe kake kazakudya ndi galactosemia ndi glycogenoses. Matendawa omwe ali ndi zizindikiro zofananako akuphatikizidwa ndi chilema mwa kaphatikizidwe ka michere. Chithandizo chimaphatikizapo kukhazikitsa chakudya chapadera. Galactosemia ndi matenda obadwa nawo a kagawofidirate kagayidwe kake. Galactose ya Monosaccharide ndi gawo la lactose - gawo lalikulu la makapu a mkaka ndi zosakaniza mkaka.
Mphamvu ya kusowa kwa enzyme m'thupi
Ndi galactosemia, pali kusowa kwa mphamvu yowonjezera ya kuchepa kwa thupi - galactose-1-phosphaturidyl transfasease. Ngati palibe, njira yothetsera galactose kuti ikhale ndi shuga (gwero lalikulu la mphamvu kwa thupi) imasokonezeka. Ana omwe ali ndi galactosemia ali ndi galactose yapamwamba m'magazi ndi chizoloŵezi chochepa kwambiri m'magazi a shuga. Matendawa akhoza kulandira kuchokera kwa amayi ndi abambo.
Zizindikiro
Ana omwe ali ndi galactosemia pa kubadwa samasiyana ndi anzako wathanzi, koma matenda awo amayamba kuwonjezereka atayamba kuyamwa (bere kapena botolo). Zizindikiro zotsatirazi zimakhala:
- jaundice (khungu ndi khungu la maso limakhala ndi chikasu);
- Kukulitsa chiwindi;
- chidziwitso chodziletsa.
Chithandizo ndi matenda
Chithandizo chimaphatikizapo kupatsidwa zakudya zopanda lactose komanso zakudya zopatsa thanzi. Kuchiza koyambirira kudzathandiza kupewa chitukuko cha chiwindi chosatha ndi mavuto ena, monga kuchedwa kwachitukuko ndi cataract. Komabe, ngakhale kutsatila zakudya zofunika kuyambira ali aang'ono, ana omwe ali ndi galactosemia nthawi zambiri amakhala ndi mavuto ophunzirira. Glycogen ndiyo njira yaikulu yosungira mphamvu m'thupi la munthu. Molekyu yake yaikulu imakhala ndi tizilombo tating'onoting'onoting'ono tambiri timene timagwirizanitsa pamodzi. Pamene thupi limasowa shuga ngati gwero la mphamvu, limamasulidwa ku glycogen mothandizidwa ndi mahomoni ena. Masitolo a glycogen amapezeka minofu ndi chiwindi.
Ziphuphu zamakono
Ndi glycogenoses pali kuphwanya kwa glycogen yosungirako, zomwe zimabweretsa kusowa kwa masitolo. Pali mitundu yambiri ya zolephereka mu machitidwe a ma enzyme omwe amachititsa kuti chitukuko cha glycogenases chikule. Malinga ndi kaphatikizidwe kamene kagawo kamene kamasweka, matendawa akhoza kutsagana nawo
kuwonongeka ndi kufooka kwa minofu, kuwononga chiwindi kapena mtima. Mwa ana oterewa, pali kuthekera kochepa kwambiri mu kuchepetsa magazi m'magazi (hypoglycemia).
Njira zamankhwala
Ana omwe ali ndi glycogenosis amafunikira mankhwala opitirira maola 24 kuti athetse kuchepa kwakukulu m'magazi a shuga. Nthawi zambiri ayenera kudyetsedwa. Ana omwe sangathe kumeza chakudya amadyetsedwa kupyolera mu phokoso la nasogastric (chubu yomwe imalowetsedwa mmimba kudzera m'mphuno). Mankhwalawa amafunikanso kwa ana omwe amafunikira chakudya chamagulu pamene akugona ndi chizoloŵezi chochepetsa magazi m'magazi. Ana okalamba amapatsidwa chithandizo chodyera ndi chimanga cha chimanga (kapangidwe kake kamene kali ndi shuga zosavuta zosiyanasiyana). Izi zimathandiza kuchepetsa kutuluka kwa shuga m'magazi ndi kusunga mlingo wake mkati mwake. Matenda osokonezeka a mapuloteni amapezeka mosavuta, koma amatha kukhudza thupi la mwanayo. Ambiri mwa awa ndi phenylketonuria, tyrosinemia, homocystinuria ndi valinoleucinuria. Pali mitundu yambiri ya matenda okhudzidwa ndi matenda omwe amabwera m'mimba. Ambiri mwa awa ndi phenylketonuria, tyrosinemia, homocystinuria ndi valinoleucinuria.
Phenylketonuria
Phenylketonuria ndi matenda omwe amadziwika ndi kusowa kwa puloteni phenylal-ninhydroxylase. Kawirikawiri zochitika za phenylketonuria zimachokera ku 1:10 000 mpaka 1:20 000 kubadwa kumene. Ichi ndi chimodzi mwa mavuto omwe amachititsa kuti thupi lisokonezeke, koma zotsatira zake ndizochepa.
Kulephera kwa enzyme
Kulephera kwa enzyme mu phenylketonuria kumapangitsa kuwonjezeka kwa magazi m'magazi a amino acid phenylalanine ndi metabolites - phenylketones. Amawoneka mumtsinje wa wodwalayo (choncho dzina la matenda). Phenylalanine imapezekanso mkaka wa m'mawere, kotero kuti mwazi wake m'magazi a mwana umakwera kufika pamatenda ofunika kwambiri, zimatengera masiku anayi kapena asanu akuyamwitsa. M'mayiko ambiri, ana obadwa amawonetsedwa pa matendawa patatha mlungu umodzi atabadwa. Mzungu wamagazi amachotsedwa chidendene cha mwana kuti ayambe kusanthula ma laboratory.
Dietotherapy
Pamene kukhala ndi thupi lochepa la phenylalanine m'magazi, mwana akhoza kukula ndikukula. Zakudya zokha kupatula phylalalanine ndiyo njira yokondweretsedwa, ndipo imayenera kutsatiridwa ku moyo wonse. Popanda chithandizo, ana awa amayamba kukhala ndi matenda a khunyu, otchedwa infantile spasms, kuchedwa kwa kukula kwa thupi ndi m'maganizo. Ali ndi IQ yochepa kuposa anzawo, ngakhale kuti chiwerengero cha maphunziro chikhoza kusiyana. Tyrosinemia ndi matenda osadziwika. Mofanana ndi mavuto ambiri a mapuloteni, amayamba pamene mwanayo apitirira majeremusi osalongosoka kuchokera kwa makolo onse awiri. Tyrosinemia imapezeka pafupifupi kawiri kawiri kuposa phenylketonuria. Matendawa ali ndi kusowa kwa puloteni ya fumaryl acetoacetase ndipo ikuphatikizapo kuchuluka kwa amino acid tyrosine ndi metabolites m'magazi.
Zizindikiro
Kwa odwala omwe ali ndi tyrosinemia, chidziwitso cha chidziwitso cha chidziwitso chimakula. Makamaka amavumbulutsidwa mwa ana omwe ali ndi matenda aakulu. Mitundu yochepa imakhala ndi kuwonongeka kosatha kwa chiwindi ndi impso ntchito. Ana ambiri omwe ali ndi tyrosinemia amatha kukhala ndi hepatoma (chifuwa cha chiwindi).
Chithandizo
Zakudya zochiritsira ndi zoletsedwa ndi mankhwala omwe ali ndi tyrosine, ndipo kugwiritsa ntchito zakudya zowonjezera kumapangitsa chithunzi cha magazi. Komabe, zakudya sizingalepheretse kuwononga chiwindi. Nthaŵi zambiri, odwala amafunika kuika chiwindi. Mpaka posachedwa, opaleshoniyi ndiyo njira yokhayo yothandizira. Komabe, mankhwala akupangidwa tsopano omwe angathe kuteteza kukula kwa chiwindi kulephera ndi zivundi za chiwindi. Homocystinuria ndi matenda aakulu a kagayidwe kake, omwe amasonyeza kuyambira ali wakhanda. Matendawa ali ndi kusowa kwa puloteni ya cystathione synthetase. Homocystinuria ndizosowa kwambiri - pafupifupi 1 pa 350,000 ana ang'onoang'ono.
Zizindikiro
Ana omwe ali ndi homocystinuria akhoza kukhala:
- kuphwanya kakulidwe;
- kusowa kwa thupi;
- kuchepetsa maganizo ndi otsika IQ;
- chiwonetsero;
- kusokoneza (kugwedeza) kwa diso la diso;
- msinkhu wodabwitsa kwambiri ndi zala zala.
Homocystinuria ikuphatikizidwa ndi chiopsezo chowonjezeka cha myocardial infarction ndi stroke. Pakhoza kukhalanso ndi khalidwe lodziwika bwino lomwe limatchedwa kuyenda kwa Charlie Chaplin. Ana ena amayamba kugwa khunyu. Pafupifupi theka la odwala omwe ali ndi homocystinuria amayankha mankhwala a vitamini B (pyridoxine), omwe amachititsa kuti thupi likhale lopanda mphamvu. Vitamini iyi imapezeka mu nyama, nsomba ndi mbewu zonse, koma ndizofunika kwambiri muyezo waukulu kusiyana ndi momwe mungapezere chakudya. Ngati mankhwala a vitamini B sagwira ntchito, zakudya ndi zoletsedwa za mankhwala omwe ali ndi amino acid methionine komanso owonjezera amino acid, cysteine, amalembedwa. Valinooleucinuria ndi matenda osadziwika mu metabolism amino acid. Zimapezeka m'modzi 1 pa ana okwana 200,000. Matendawa amadziwika ndi kuchuluka kwa amino acid ndi unyolo wa nthambi.
Zizindikiro
Matendawa ali ndi zizindikiro zambiri. Mbali yake yapadera ndi fungo la mapulo a mkodzo. Valynoleucinuria ali ndi zizindikiro zotsatirazi: mawonekedwe ovuta a mwanayo; phokoso; magazi ochuluka kwambiri kusiyana ndi ozoloŵera, chizoloŵezi chochepetsa kwambiri shuga m'magazi. Ngati matendawa apangidwa tsiku loyamba la moyo, chitsimikizo chovomerezeka n'chotheka. Komabe, ana ambiri omwe ali ndi valinoleucinuria amafa ali aang'ono. Opulumuka angakhale ndi zovuta pakukula kwa ubongo ndipo nthawi zambiri amaphunzira zovuta.