Izwi rokuti "metabolism", mumutauro wekusagadzikana kwemagetsi, zvinoreva sarudzo yemagetsi ezvokudya zvinokosha - mapuroteni, mafuta uye makhahydrates. Muchikamu chino, kukanganisa kwe metabolism ye-carbohydrates nemaprotinini kunoongororwa.
Carbohydrates
Carbohydrates mamolekemu ane carbon, hydrogen uye oksijeni. Kune majeehydrates akareruka uye akaoma. Zvine makedhihydrates zvinoratidzirwa zvinomiririrwa neshuga, izvo zvakakamurwa kuva mono- uye disaccharides. Iko inonyanya kukosha yemakrohydrates ari glucose monosaccharide. Mahydrohydrates akawandisa, kana polysaccharides, akadai samashikiti, ane chimiro chakaoma kunzwisisa. Kuti uite zvakakwana mumakumbo ekudya, mapehydrates ose anopinda muzvokudya anofanira kuparadzaniswa kusvika kushuga nyore.
MaProteins
Mapuroteni mapoka makuru eine maketani eamino acids. Puroteni yoga yoga ine sarudzo yakasiyana-siyana, ine zviyero zvayo zveamino acids. Kazhinji, mukugadzirisa kwemasabetism, mapuroteni makuru emaproteni anoparadzaniswa kuva awo anime amino acids. Aya amino acids anoshandiswa nemuviri sechinhu chinopa simba kana anobatanidzwa mukubatanidzwa kwevamwe mapuroteni.
Enzyme systems
Nzira yekuparadzanisa makhahydrates uye mapuroteni anobva mukushanda kwakakwana kwemaitiro e enzyme emuviri. Nekushayikwa kweimwe enzyme, nzira yekugadzirisa zvirwere inoputika, iyo inocherechedza, somuenzaniso, muhutano hwehutano hwemagetsi. Kune marudzi akawanda ematambudziko emagetsi, asi ose haasi nyore.
Heredity
Matambudziko anokonzerwa nehutano hwemagetsi anotaura nezvezvirwere zvegeneti uye anowanzotora nhaka muzvinyorwa zvisinganzwisisiki. Panguva imwechete yekuvandudzwa kwechirwere ichi chinodiwa kuti mwana anogamuchire zviviri zvepabonde zvakashata: imwe kubva kuna baba uye imwe kubva kuna amai.
Diagnostics
Matambudziko emagetsi anokwanisa kuonekwa munguva yekuberekwa, nguva pfupi mushure mokuberekwa kana muvana vakwegura. Zvinokwanisika kufungidzira zvirwere zveboka iri musati maberekwa mwana, kana mhuri yacho iine zvirwere zvekushungurudzika kwemagetsi.
Zviratidzo muzvitsva
Vacheche vane zvirwere zvepabonde zvinokonzerwa nehutano zvinowanzotarisa zvinotyisa mumavhiki ekutanga ehupenyu. Vanowanzosamwa zvakanaka, vanorara uye vane usimbe, kunyange ku coma. Mune zvimwe zviitiko, kunetseka kunowedzera. Izvi zviratidzo hazvisi zvakananga zveboka iri rezvirwere. Chimwe chinhu chinoratidzwa nevarwere vane hutano hwemakemikari ehutachiona hunhu husina kujairika rweganda.
Zviratidzo mumakore akwegura
Kana chirwere chacho chinowanikwa kune munhu akwegura, zvichida mwana wacho ane chirwere chiduku. Vana vakadaro vane zviratidzo zvakafanana zvechirwere, sechechecheche, pamwe nekurasika kwepfungwa uye kukura mumuviri. Zvimwe zviratidzo zvinosanganisira kurutsira, kunetseka uye coma. Kukanganisa kukuru kwe metabolism yemakhahydrates kune galactosemia uye glycogenoses. Zvirwere izvi zvine zviratidzo zvakafanana zvinosanganiswa nechirema mukati mekutanga kwe enzymes. Kurapa kunosanganisira kugadzwa kwekudya kwakakosha. Galactosemia inorwara yakawanda yemakinhydrate metabolism. Monosaccharide galactose chikamu che lactose - iyo yakagadzirwa nemakinehydrates muchero wemukaka nemukaka wemukaka.
Kukanganisa kwekushaya simba kwe enzyme pamuviri
Ne galactosemia, pane kushayikwa kwe enzyme inokosha yemetabolism - galactose-1-phosphaturidyl transferase. Kana isipo, chirongwa chekushandura galactose kusvika glucose (iyo inonyanya kushandisa simba kumuviri) inopwanyika. Vana vane galactosemia vane yepamusoro ye galactose muropa uye chido chekuderera kukuru kwemajukisi. Ichi chirwere chinogona kupiwa nhaka kubva kuna mai nababa.
Zviratidzo
Vana vane galactosemia pakuberekwa havakwanisi nevezera ravo vane hutano hwakanaka, asi mamiriro avo anotanga kuwedzera kukura pashure pokutanga kwekudya (mukaka kana bhodhoro). Zviratidzo izvi zvinotevera:
- jaundice (ganda uye sclera yemaziso inowana ruvara rwezuva);
- kuwedzera kwechiropa;
- hepatic insufficiency.
Kurapa uye kufungidzira
Kurapa kunosanganisira kugadzirirwa kwe-lactose-isina uye gluten-isina kudya. Kurapa kwokutanga kuchabatsira kudzivirira kukura kwechirwere chisingaperi chisingaoneki uye zvimwe zvinetso, zvakadai sokunonoka kukura uye cataract. Zvisinei, pasinei nekuchengetedza kudya kwakakodzera kubva pazera remakore, vana vane galactosemia vanowanzove nedambudziko rekudzidza. Glycogen ndiyo nzira huru yekuchengetedza simba mumuviri womunhu. Iko molecule yayo yakawanda ine zviduku zvinyoro-molesikoni zvakabatanidza pamwe chete. Apo mutumbi unoda glucose semusimba wemasimba, unosunungurwa kubva kune glycogen pasi pesimba remamwe mahomoni. Nzvimbo dzeglycogen dzinowanikwa mumasumbu uye chiropa.
Enzymatic defects
Ne glycogenoses kune kukanganisa kwezvinhu zvekuchengetedza glycogen, izvo zvinotungamirira pakushaiwa kwezvigadzirwa zveglucose. Kune mhando dzakasiyana dzezviremera mu enzyme systems dzinotungamirira pakuvandudzwa kweglycogenases. Zvichienderana nehuwandu hwehutachiona hunoputsika, chirwere chinogona kuendeswa
kukanganisa uye kushaya simba kwemisungo, kukuvadza pachiropa kana mwoyo. Muvana vakadaro, kune mukana wekutsoropodza kunokonzerwa neropa glucose (hypoglycemia).
Mazano ekurapa
Vana vane glycogenosis vanoda chirwere chinopfuurira maawa makumi maviri nemasere kuti vadzivirire kuderedza kuderedza muropa rekuisa ropa. Vanofanira kugara vachidyiwa. Vacheche vasingawanzogoni kumedza kudya vanodyiwa kuburikidza nejasi rinoputika (tube inowanikwa mudumbu nemumhino). Nasogastric tube inogonawo kudiwa kune vana vanoda kamu-carbohydri zvokudya panguva yokurara nemafungiro ekuderedza mazinga emaglucose eropa. Vana vakwegura vanorayirwa kudya kwekudya nemashizha ekaramichi (yakaoma carbohydrate ine sirasi dzakasiyana-siyana). Izvi zvinoita kuti kupfurikidza kweglucose kuwedzere muropa nekuchengetedza kwemazinga ayo mukati mekugara. Kukanganiswa kwemaitiro eprotein metabolism hawanzwisisiki, asi inogona kuva nemigumisiro inokosha pamuviri wemwana. Yakawanda pane idzi ndeye phenylketonuria, tyrosinemia, homocystinuria uye valinoleucinuria. Kune mhando dzakawanda dzepenital disorders yeprotein metabolism. Yakawanda pane idzi ndeye phenylketonuria, tyrosinemia, homocystinuria uye valinoleucinuria.
Phenylketonuria
Phenylketonuria chirwere chinoratidzwa nekushayikwa kwe enzyme phenylal-ninhydroxylase. Kakawanda kwekuitika kwe phenylketonuria kunobva kuna 1:10 000 kusvika 1:20 000 kuberekwa patsva. Icho chimwe chezvinetso zvinowanzogadzirwa nemagetsi, asi zviitiko zvaro zvakaderera zvakakwana.
Enzyme insufficiency
Kushaiwa kweenzyme mu phenylketonuria kunotungamirira kuwedzerwa muropa ropa reamino acid phenylalanine uye metabolites yayo - phenylketones. Zvinowanikwa mumurwere wemurwere (saka zita rechirwere). Phenylalanine inowanikwawo mumukaka wechipfuva, zvisinei, kuitira kuti ropa raro muropa remwana rikwire kune imwe nzvimbo inokosha, inotora mazuva mana kusvika mashanu ekuyamwisa. Munyika dzakawanda, vacheche vanoongororwa nekuda kwehutachiwana kwevhiki mushure mokuberekwa. Ropa remuropa rinotorwa kubva chitsitsinho chemu mwana kubato rekuongorora.
Dietotherapy
Kunyange zvazvo uine hutsika hwakaderera hwe phenylalanine muropa, mwana anogona kukura nekukura. Zvokudya kunze kwe phenylalanine ndiyo nzira inoshandiswa yekurapa, uye inofanira kuteverwa mukati mehupenyu hwose. Kana kusina kurapwa, vana ava vanokudziridza chimiro chakaoma chekufa, izvo zvinodanwa kuti vana vaduku, kusanonoka pakuvandudza muviri uye mupfungwa. Ivo vane IQ yakadzika kupfuura vezera ravo, kunyange zvazvo chiyero chekudzidza chingasiyana. Tyrosinemia chirwere chisingawanzoitiki. Kufanana nematambudziko akawanda eprotein metabolism, inowanikwa kana mwana apfuura maitiro akanganisa kubva kuvabereki vose. Tyrosinemia inowanikwa kanenge ka10 pane zvishoma pane phenylketonuria. Chirwere ichi chinoratidzwa nekushayikwa kwe-enzyme ya fumaryl acetoacetase uye inowanikwa nekuwedzera kwemazinga eamino acid tyrosine uye metabolites ayo muropa.
Zviratidzo
Muvarwere vane tyrosinemia, renal uye hepatic insufficiency inokura. Kunyanya kukurumidza inoratidzwa mucheche ane chirwere chakakomba. Muchidimbu maitiro akaoma anoratidzirwa nekusaremara kusingaperi kwechiropa uye zvepfungwa basa. Vazhinji vana vane tyrosinemia vanozopedzisira vava nehepatoma (chiropa chechiropa).
Kurapa
Kurapa kwekurapa nekudziviswa kwezvinhu zvinokonzera tyrosine, uye kushandiswa kwezvokudya zvinowedzera chirwere chemuropa weropa. Zvisinei, chikafu hachigoni kudzivirira chiropa kukuvara. Muzviitiko zvakawanda, varwere vanoda chiropa chekuisa. Kusvikira munguva pfupi ichangopfuura, kushanda uku kwaive nzira chete inoshanda yekurapwa. Zvisinei, mishonga irikudzidziswa iyezvino inogona kudzivirira kukura kwechiropa kusakundikana uye zvipembenene zveropa. Homocystinuria chirwere chakakura chemagetsi, chinoratidzwa mucheche. Chirwere chacho chinoratidzwa nekushayikwa kwekrisitione synthetase enzyme. Homocystinuria inowanikwa zvachose - inenge 1 mu 350,000 vacheche.
Mamiriro
Vana vane homocystinuria vangave:
- kuputsa kwekugadzirwa kwemuviri;
- kushaya muviri;
- Kuora mwoyo mupfungwa neIQ yakadzika;
- propensity to convulsions;
- dislocation (subluxation) yeruva reziso;
- chimiro chakareba zvisingaverengeki uye minwe yakareba.
Homocystinuria inosangana nehuwandu hwehuwandu hwemyocardial infarction uye chirwere. Ikoko kunogona kuvawo unhu hunofungidzira (izvo zvinodanwa kufamba kweCharlie Chaplin). Vamwe vana vanotanga kuora mwoyo. Vanenge hafu yevarwere vane homocystinuria vanopindura zvakanaka vitamini B (pyridoxine) kurapwa, iyo inowedzera basa rekushaya mvere enzyme. Ichi vitamini chinowanikwa munyama, hove uye zviyo zvakakwana, asi zvinodiwa mumazinga akawanda kwazvo kudarika zvinogona kuwanikwa nekudya. Kana chirwere chevhitamini B chisina kubudirira, kudya kunorambidzwa kwezvinhu zvinosanganisira amino acid methionine uye kuwedzera kwechimwe cheimwe amino acid, cysteine, inorayirwa. Valinooleucinuria chirwere chisingawanzoitiki mune metabolism ye amino acids. Inowanikwa munyaya 1 nevana vanenge 200 000 vacheche. Chirwere chacho chinoratidzwa nekuwedzera kwehuwandu hweamino acids ne branched chain.
Zviratidzo
Denda rine zviratidzo zvakawanda. Iyo yakasiyana nayo inhuhwirira yemaple syrup emuti. Valynoleucinuria inoratidzwa nezviratidzo zvinotevera: kuonekwa kunorwadza kwomwana; kunetseka; kunyanya kubuda ropa kunowanzoitwa, kusanganisa kunokonzera kupera muropa yehuga. Kana kuongororwa kuchiitwa muzuva rokutanga rehupenyu, chirevo chekanaka chinokwanisika. Kunyange zvakadaro, vana vakawanda vane valinoleucinuria vanofa vachiri vaduku. Vakapona vangave vasina kukanganisa mukuvandudzirwa kweuropi uye vanowanzova nekudzidza matambudziko.