Lub sij hawm "metabolism", nyob hauv cov ntsiab lus ntawm metabolic abnormalities, txhais tau ib co txheej txheem ntawm kev sib cais ntawm cov as-ham - cov nqaijrog, nqaijrog thiab carbohydrates. Hauv tsab ntawv no, kev ua txhaum ntawm cov metabolism hauv carbohydrates thiab cov proteins uas tau kuaj xyuas.
Carbohydrates
Carbohydrates yog cov roj molecules cov roj, hydrogen thiab oxygen. Muaj cov yooj yim thiab complex carbohydrates. Yooj yim carbohydrates yog sawv cev los ntawm suab thaj, uas tau muab faib ua cov mono- thiab disaccharides. Qhov tseem ceeb ntawm qhov yooj yim carbohydrates yog cov kab mob monosaccharide. Feem xyaw carbohydrates, los yog polysaccharides, xws li nplej siab, muaj ntau txheej txheem. Rau assimilate hauv cov hnyuv, tag nrho cov carbohydrates uas nkag mus rau hauv cov khoom noj yuav tsum muab faib rau cov suab thaj yooj yim.
Proteins
Proteins yog cov loj lwg me me uas muaj cov chains ntawm cov amino acids. Txhua tus kabmob muaj ibqho txheej txheem, coj nws tus kheej cov lej ntawm amino acids. Feem ntau, nyob rau hauv cov txheej txheem ntawm cov metabolism, cov protein ntau cov protein ntau yog faib rau lawv cov tshuaj amino acids. Cov amino acids no yog siv los ntawm lub cev los ua qhov chaw ntawm lub zog los yog koom tes hauv cov khoom siv ntawm lwm cov proteins.
Cov kab mob enzyme
Cov txheej txheem ntawm cais carbohydrates thiab proteins nyob ntawm tag nrho cov hauj lwm ntawm lub tshuab enzyme ntawm lub cev. Nrog ib tug deficiency ntawm ib qho enzyme, cov txheej txheem metabolic cuam tshuam, uas yog pom, xws li, nyob rau hauv congenital metabolic disorders. Muaj ntau hom mob metabolic, tab sis lawv yog cov tsawg heev.
Heredity
Kev noj qab haus huv metabolic ntshawv siab yog hais txog cov kab mob caj ces thiab feem ntau yog tau txais los ntawm kev mob ntsws (autosomal recessive). Nyob rau tib lub sij hawm rau kev loj hlob ntawm tus kab mob no nws yog ib qhov tsim nyog hais tias tus me nyuam tau txais ob lub noob keeb: ib leeg ntawm leej txiv thiab ib leej niam.
Diagnostics
Cov kab mob metabolic tuaj yeem kuaj tau nyob hauv lub sijhawm xeeb tub, tom qab yug los lossis cov me nyuam loj dua. Nws yog qhov ua tau kom pom cov kab mob ntawm cov neeg no ua ntej yug tus me nyuam, yog tias tsev neeg muaj mob ntawm cov kab mob metabolic.
Cov tsos mob hauv cov me nyuam mos
Cov menyuam mosliab uas muaj tus kabmob metabolic disorders feem ntau yog mob siab heev rau thawj lub limtiam ntawm lub neej. Lawv feem ntau tsis nqus zoo, tsaug zog thiab sluggish, txawm mus rau coma. Qee zaum, kev nruj muam tuaj. Cov tsos mob no tsis yog hais rau pawg neeg no. Tus yam ntxwv ntawm cov neeg mob uas muaj tus mob metabolic disorders yog ib qho txawv txawv ntawm daim tawv nqaij.
Cov tsos mob hauv cov laus dua
Yog tias qhov teeb meem no tau kuaj pom thaum muaj hnub nyoog laus zog, nws yuav ua rau tus me nyuam muaj mob me ntsis. Cov menyuam yaus muaj cov cim zoo li tus kab mob, xws li thaum tseem yog me nyuam yaus, nrog rau hlwb ruamqauj thiab lub cev loj hlob. Lwm cov tsos mob muaj xws li ntuav, nrhaub thiab coma. Cov kev ua txhaum loj ntawm cov metabolism hauv cov carbohydrates yog galactosemia thiab glycogenoses. Cov kab mob uas zoo li cov tsos mob zoo li no yog cuam tshuam nrog lub kho hauv cov synthesis of enzymes. Kev kho muaj nyob rau hauv lub sijhawm teem ntawm kev noj haus tshwj xeeb. Galactosemia yog ib qho kev xeeb ceem ntawm cov kab mob carbohydrate. Monosaccharide galactose yog ib feem ntawm lactose - lub ntsiab carbohydrate feem ntau ntawm cov kua mis thiab mis sib xyaw mis.
Cuam tshuam kev tsis zoo ntawm lub cev
Nrog galactosemia, muaj ib deficiency ntawm qhov tseem ceeb enzyme ntawm metabolism - galactose-1-phosphaturidyl transferase. Thaum nws tsis tuaj, txoj kev hloov ntawm galactose mus piam thaj (qhov tseem ceeb ntawm lub zog ntawm lub cev) yog cuam tshuam. Cov menyuam uas muaj tus kabmob galactosemia muaj qaug zog ntawm galactose nyob rau hauv cov ntshav thiab ib txoj kev xav txo qis qis hauv qabzib. Tus kab mob no tau txais los ntawm leej niam thiab leej txiv.
Cov tsos mob
Cov menyuam uas muaj tus kab mob galactosemia thaum yug los tsis txawv ntawm cov neeg noj qab nyob zoo, tab sis lawv tus mob pib qhuav tuaj tom qab pib pub mis (mis lossis lub raj mis). Cov tsos mob nram qab no pib:
- jaundice (tawv nqaij thiab sclera ntawm ob lub qhov muag tau cov xim daj);
- kev loj hlob ntawm daim siab;
- mob ntsws tsis muaj sia.
Kev kho thiab kev pom zoo
Cov kev kho muaj nyob rau ntawm lub sij hawm ntawm cov tsis muaj lactose thiab glutens tsis pub noj haus. Kev kho thaum ntxov yuav pab tiv thaiv kom tsis txhob mob siab rau lub siab thiab lwm yam kev nyuab siab, xws li kev loj hlob qeeb thiab cataract. Txawm li cas los, txawm tias ua raws li kev noj haus kom tsim nyog los ntawm cov hnub nyoog ntxov, cov menyuam uas muaj tus kabmob galactosemia feem ntau muaj kev kawm nyuaj. Glycogen yog lub ntsiab ntawm lub zog cia rau hauv tib neeg lub cev. Nws loj molecule muaj me me qabzib molecules txuas ua ke. Thaum lub cev xav tau qabzib li qhov chaw ntawm lub zog, nws tawm ntawm glycogen hauv qee yam ntawm cov tshuaj hormones. Cov stocks ntawm glycogen muaj nyob hauv cov leeg thiab lub siab.
Enzymatic teem meem
Nrog glycogenoses muaj ib qho kev ua txhaum ntawm cov txheej txheem ntawm glycogen cia, uas ua rau cov khoom qab zib tsis muaj. Muaj ntau hom teeb meem nyob rau hauv cov tshuab enzyme uas ua rau kev loj hlob ntawm glycogenases. Nyob ntawm seb tus synthesis uas tus enzyme tau tawg, tus kab mob no yuav muaj nrog
puas tsuaj thiab qaug zog ntawm cov leeg, ua rau daim siab los yog lub plawv. Nyob rau hauv xws li cov me nyuam yaus, muaj ib qho tseem ceeb ntawm txo cov ntshav qabzib (hypoglycemia).
Tactics ntawm kev kho mob
Cov menyuam uas muaj tus kab mob glycogenosis yuav tsum tau kho 24 xuab moos kom tiv thaiv kom tsis txhob txo cov ntshav qabzib. Lawv yuav tsum tau noj ntau zaus. Cov me nyuam tsis tuaj yeem nqos tau cov zaub mov yog pub los ntawm ib lub raj muaj nas (ib lub raj tso rau hauv plab los ntawm lub qhov ntswg). Nasogastric raj kuj tuaj yeem xav tau rau cov menyuam yaus uas xav tau zaubmov carbohydrate thaum lub sijhawm pw tsaug zog kom txo cov ntshav qabzib. Cov me nyuam loj dua tuaj kho cov kab mob kev noj qab haus huv nrog pob kws nplej siab (ib txoj kab carbohydrate uas muaj ntau hom suab thaj yooj yim). Qhov no ua kom qeeb qeeb ntawm cov suab thaj hauv cov ntshav thiab cov txij nkawm ntawm nws theem nyob hauv tus qauv. Kev noj qab haus huv cov teeb meem ntawm protein ntau metabolism tsawg tsawg, tab sis lawv muaj peev xwm muaj kev cuam tshuam rau tus me nyuam lub cev. Feem ntau ntawm cov no yog phenylketonuria, tyrosinemia, homocystinuria thiab valinoleucinuria. Muaj ntau hom congenital mob ntawm cov protein metabolism hauv. Feem ntau ntawm cov no yog phenylketonuria, tyrosinemia, homocystinuria thiab valinoleucinuria.
Phenylketonuria
Phenylketonuria yog ib qho kab mob ua los ntawm qhov tsis muaj peev xwm ntawm qhov enzyme phenylal-ninhydroxylase. Kev tshwm sim ntawm tshwm sim ntawm phenylketonuria yog los ntawm 1:10 000 txog 1:20 000 yug me nyuam. Nws yog ib qho ntawm feem ntau cov metabolic mob, tab sis nws muaj feem tsawg txaus.
Enzyme tsis muaj txhij txhua
Enzyme deficiency nyob rau hauv phenylketonuria ua rau nce hauv cov ntshav theem ntawm cov amino acid phenylalanine thiab nws cov metabolites - phenylketones. Lawv tshwm sim hauv tus neeg mob cov zis (li lub npe ntawm tus kab mob). Phenylalanine kuj muaj nyob hauv niam mis, txawm li cas los xij, nws cov ntshav siab nyob hauv tus me nyuam cov ntshav nce mus rau qib siab, nws yuav siv li 4 rau 5 hnub ntawm kev pub mis niam. Hauv ntau lub teb chaws, cov tub ntxhais hluas tau ntsuam xyuas cov kab mob no ib lub lis piam tom qab yug tas. Ib qho ntshav coj mus kuaj los ntawm pob luj ntawm tus menyuam rau kev kuaj xyuas.
Dietotherapy
Thaum tswj cov qib phenylalanine tsawg hauv cov ntshav, tus me nyuam muaj peev xwm loj hlob thiab loj hlob. Kev noj haus nrog rau kev zam ntawm phenylalanine yog txoj kev nyiam tshaj kev kho mob, thiab nws yuav tsum tau adhered mus tas lub neej. Thaum tsis muaj kev kho, cov menyuam no tsim muaj cov kab mob qog siab heev, hu ua "infantile spasms", ncua kev loj hlob ntawm lub cev thiab lub hlwb. Lawv muaj IQ tsawg dua li lawv cov phooj ywg, txawm tias qhov kawm ntawm cov kev kawm sib txawv. Tyrosinemia yog ib qho kab mob tsawg heev. Zoo nkaus li feem ntau ntawm cov kab mob protein metabolism, nws tsim tawm thaum tus me nyuam kis tau cov noob noob ntawm ob leeg niam txiv. Tyrosinemia tshwm sim li ntawm 10 times ntau dua li phenylketonuria. Tus kab mob no yog ib qho tsis muaj peev xwm ntawm lub fumaryl acetoacetase enzyme thiab yog nrog los ntawm kev nce qib ntawm amino acid tyrosine thiab nws cov metabolites hauv cov ntshav.
Cov tsos mob
Hauv cov neeg mob tyrosinemia, mob plab thiab mob ntsws tsis muaj zog. Tshwj xeeb yog ceev nrooj nws yog manifested rau cov me nyuam mos uas muaj mob loj. Cov ntaub ntawv nyhav tsis tshua muaj tshwm sim los ntawm kev tsis taus ntawm lub siab thiab lub raum ua haujlwm. Feem ntau ntawm cov menyuam uas muaj tyrosinemia tom qab tsim tus kabmob hepatoma (lub siab ua qog).
Kev kho mob
Kho cov khoom noj uas muaj kev txwv ntawm cov khoom muaj tyrosine, thiab kev siv cov khoom noj khoom haus ntxiv rau tus neeg mob cov ntshav. Txawm li cas los, txoj kev noj haus tsis tuaj yeem tiv thaiv daim siab puas. Feem ntau, cov neeg mob yuav tsum tau hloov ntshav siab. Kom tsis ntev los no, qhov kev lag luam no tsuas yog txoj kev kho mob zoo xwb. Txawm li cas los xij, cov tshuaj yog tam sim no raug tsim tawm los tiv thaiv txoj kev tsis ua hauj lwm rau daim siab thiab lub siab lub siab. Homocystinuria yog ib qho mob nyhav metabolic, tshwm sim hauv me nyuam mos. Tus kab mob no yog tus cwj pwm tsis zoo los ntawm cov cystathione synthetase enzyme. Homocystinuria tsawg kawg - kwv yees li ntawm 1 hauv 350,000 tus menyuam yug tshiab.
Yam ntxwv
Cov menyuam uas muaj homocystinuria tuaj yeem:
- ua txhaum ntawm kev loj hlob ntawm lub cev;
- tsis muaj lub cev hnyav;
- hlwb ruamqauj nrog IQ qis;
- propensity rau convulsions;
- dislocation (subluxation) ntawm lub lens ntawm lub qhov muag;
- txawv qis thiab ntev ntiv tes.
Homocystinuria yog nrog los ntawm kev pheej hmoo siab ntawm kev mob plawv thiab kev mob hlab ntsha tawg. Tseem muaj peev xwm ua tau ib tus yam ntxwv ntawm txoj kev sib tw (qhov kev sib txuas lus ntawm Charlie Chaplin). Qee cov me nyuam tau mob qaug dab peg. Kwv yees li ntawm ib nrab ntawm cov neeg mob homocystinuria teb tau zoo rau kev kho vitamin B (pyridoxine), uas ua rau kom muaj kev ua kom muaj cov enzyme. Cov tshuaj vitamin no muaj nyob rau hauv nqaij, ntses thiab whole grains, tab sis nws yuav tsum tau txhaj tshuaj ntau dua li cov zaub mov. Yog hais tias txoj kev kho nrog vitamin B muaj kev tsis txaus, kev noj zaub mov nrog kev txwv cov khoom uas muaj cov amino acid methionine thiab ntxiv cov ntsiab lus ntawm lwm cov amino acid, cysteine, yog cov tshuaj. Valinooleucinuria yog ib qho tsis tshua muaj teeb meem hauv cov metabolism hauv cov amino acids. Nws tshwm sim nyob rau hauv ib rooj plaub ntawm 200,000 tus me nyuam mos. Tus kab mob no yog tus cwj pwm los ntawm kev nce qib ntawm cov amino acids uas muaj branched saw.
Cov tsos mob
Tus kab mob no muaj ntau cov tsos mob. Nws qhov txawv txav yog qhov tsis hnov tsw ntawm maple phoov ntawm cov zis. Valynoleucinuria yog tshwm sim los ntawm cov tsos mob nram qab no: mob hnyav ntawm tus menyuam; kev sib ceg; ntau dua cov ntshav cov tshuaj tiv thaiv dua li ib txwm, txoj kev xav rau qhov txo qis qis hauv cov ntshav qab zib. Yog tias tus mob no tau ua rau thawj hnub ntawm lub neej, ib qho kev sib haum xeeb tau zoo. Txawm li cas los xij, ntau cov me nyuam uas muaj cov kab mob valinoleucinuria tuag thaum muaj hnub nyoog. Cov neeg tuag yuav muaj kev txawv txav hauv kev loj hlob ntawm lub hlwb thiab feem ntau muaj kev kawm nyuaj.