Maple Syrup Disease yog kab mob caj ces cuam tshuam nrog kev cuam tshuam ntawm metabolic ntawm cov amino acids xws li leucine, isoleucine thiab valine. Lawv cov concentration hauv tib neeg lub cev cov kua dej nce, ua rau lom, ketoacidosis, convulsions thiab coma.
History
Thawj thawj zaug hauv cov ntaub ntawv kho mob, cov kab mob maple syrup hauv cov neeg laus tau piav qhia xyoo 1954 los ntawm tus kws kho mob Menkes. Nws tau txais nws lub npe vim yog cov ntxhiab tsw tshwj xeeb ntawm cov zis hauv cov neeg mob. Rau cov kws tshawb fawb, nws zoo li hlawv qab zib lossis ntoo phoov. Lwm lub npe scientific yog branched acid kab mob.
tshwm sim kwv yees ib zaug hauv ib puas thiab tsib caug txhiab tus menyuam yug tshiab, txij li hom kev qub txeeg qub teg ntawm cov noob no yog autosomal recessive. Cov kab mob no hnyav heev thiab feem ntau xaus rau kev tuag thaum yau.
Etiology
Rau qhov kev loj hlob ntawm tus kab mob, ob niam txiv yuav tsum yog tus nqa ntawm cov noob tsis zoo,Lub luag haujlwm rau dehydrogenase ntawm branched-chain alpha-keto acids. Hauv qhov xwm txheej, qhov enzyme no muaj nyob hauv cov khoom noj muaj protein ntau xws li qe, mis nyuj, cheese, nqaij qaib, thiab lwm yam. Tus menyuam mos yug tshiab tsim cov organic acidemia, uas yog qhov txaus ntshai heev rau lub paj hlwb.
kab mob Maple syrup muaj ntau dua hauv cov neeg Yudais, Amish, Mennonites. Qhov no yog vim qhov tseeb tias lawv nyob hauv ib pab pawg neeg kaw, thiab kev sib yuav feem ntau tshwm sim ntawm cov txheeb ze nyob deb, uas txhais tau hais tias qhov tshwm sim ntawm cov niam txiv muaj cov noob hloov pauv lub luag haujlwm rau cov amino acid metabolism nce ntau.
Symptoms
Thaum ntxov li lub lim tiam thib ob tom qab yug me nyuam, cov kab mob maple syrup tuaj yeem kuaj pom tau. Cov tsos mob pw hauv tus menyuam tus cwj pwm tsis zoo: nws pheej quaj ntsiag to, noj tsis zoo, nto qaub ncaug ntau zaus, thiab tuaj yeem ntuav. Nrog rau qhov kev loj hlob ntawm intoxication, convulsions tshwm sim, cov leeg nqaij nce. Qhov no yog manifested nyob rau hauv stretching tus me nyuam lub cev, zoo li yog "ntawm ib txoj hlua", nrog ob txhais ceg hla ntawm pob taws. Txog rau kev loj hlob ntawm opisthotonus.
Yog cov niam txiv tseem tsis quav ntsej tus kab mob thiab tsis hu rau tus kws kho mob, ces theem tom ntej ntawm tus kab mob yog ua txhaum ntawm kev ua pa thiab tsis nco qab. Cov menyuam yaus ua rau qaug zog, tsis muaj kev pib, poob rau hauv stupor, thiab tom qab ntawd mus rau hauv coma. Cov kab mob neurological, txawm tias muaj txiaj ntsig zoo, tseem nyob hauv lub neej. Qhov no yog tus nqi them rau qhov tseeb tias maple syrup kab mob tsis tau kuaj pom raws sijhawm. Cov duab ntawm cov neeg mob yog kev nyuaj siab, thiab dab tsi yog qhov tu siab tshaj plaws, rau feem ntaucov me nyuam tau piav rau lawv.
Kev kuaj mob yog ua raws li kev soj ntsuam ntawm qhov muaj cov amino acids tsis muaj nyob hauv cov zis, nrog rau kev kuaj mob tshwm sim.
Kev faib tawm
Nyob ntawm qhov kev siv ntawm qhov tshwm sim thiab qib ntawm inertness ntawm dehydrogenase, ntau hom kab mob tau txawv:
- Classic. Tsis ntev tom qab yug tus me nyuam noj qab nyob zoo, hais nyob rau hauv ob peb hnub, cov tsos mob pib tshwm. Ua ntej, qhov no yog qhov tsis qab los noj mov thiab tsis kam pub niam mis, tom qab ntawd poob phaus, lub sijhawm pw tsaug zog apnea. Tom qab ntawd ib leeg clonuse, thiab tom qab ntawd clonic-tonic convulsions. Txhua yam xaus rau hauv coma. Kev ua enzyme qis dua ob feem pua.
- Lub sijhawm. Tus kab mob tsis tshwm sim nws tus kheej nyob rau hauv txhua txoj kev mus txog rau lub hlis, los yog mus txog rau ob xyoos ntawm lub neej. Qhov tshwm sim yog kab mob los yog kab mob, txhaj tshuaj tiv thaiv, los yog nce ntau ntawm cov protein ntau hauv cov zaub mov. Cov tsos mob tshwm sim zuj zus. Kev ua enzyme - txog li nees nkaum feem pua.
- Thiamin vam. Hauv nws cov kev kho mob tshwm sim, nws zoo ib yam li daim ntawv dhau los. Qhov sib txawv tseem ceeb yog cov vitamin B1 siv rau hauv kev kho mob, uas txo cov concentration ntawm amino acids hauv cov zis thiab ntshav.
Kev kho mob
Txij li thaum ib tug neeg nkag mus rau hauv tsev kho mob hauv lub xeev muaj tshuaj lom heev, nws yog ib qho tsim nyog yuav tau pib kho cov kab mob maple syrup nrog detoxification. Rau qhov no, plasmapheresis, peritoneal dialysis, kev hloov ntshav ntawm cov khoom xyaw, nrog rau kev quab yuam diuresis thiab hemosorption yog siv.
Tom qab kev ruaj khov ntawm tus neeg mob tus mob, lawv pib kho cov kab mob metabolic. Ua ntej tshaj plaws, qhov no yog kev noj zaub mov nrog cov ntsiab lus protein tsawg, qee zaum nws raug pom zoo kom tsis txhob pub niam mis. Kev ua raws li cov cai ntawm kev noj zaub mov nruj yuav pab kom tsis txhob muaj kev puas tsuaj ntxiv rau lub paj hlwb.
Ntawm thev naus laus zis tau ua rau nws muaj peev xwm kho tau tus kab mob ntawm maple phoov. Kev tshawb fawb muaj thiab muab tso rau hauv kev xyaum tshuaj uas yuav hloov cov amino acids tsim nyog. Lawv yuav khaws lawv cov metabolic tus nqi nyob rau hauv ib txwm txwv, tiv thaiv kev lom txawm tias noj ib txwm noj.
Yog koj ua raws li cov lus qhia uas tsim nyog thiab mus rau hauv tsev kho mob kom raws sijhawm, tus neeg yuav muaj peev xwm ua neej nyob puv npo. Hmoov tsis zoo, cov kab mob neurological hauv cov menyuam yaus loj hlob sai, thiab cov niam txiv tsis muaj sijhawm los ntsuas qhov tsim nyog.
