Methylmalonic acidemia

Methylmalonic acidemia yog qhov tsis txaus siab uas lub cev tsis tuaj yeem rhuav tshem qee yam protein thiab cov rog. Qhov tshwm sim yog tsim cov tshuaj hu ua methylmalonic acid nyob rau hauv cov ntshav. Tus mob no kis los ntawm tsev neeg.

Nws yog ib qho ntawm ntau qhov mob hu ua "inborn yuam kev ntawm cov metabolism."

Tus kab mob no feem ntau kuaj pom nyob rau thawj xyoo ntawm lub neej. Nws yog ib qho kev tsis sib haum xeeb ntawm tus kheej. Qhov no txhais tau hais tias lub cev muaj teeb meem yuav tsum dhau ntawm tus menyuam los ntawm leej niam thiab leej txiv.

Ib tug menyuam mos tshiab uas muaj tus mob no kuj yuav tuag ua ntej nws yuav raug kuaj. Methylmalonic acidemia cuam tshuam rau cov tub thiab ntxhais sib npaug.

Cov menyuam mos yuav tshwm sim li ib txwm thaum yug los, tab sis tsim cov tsos mob thaum lawv pib noj zaub mov muaj protein ntau, uas tuaj yeem ua rau mob loj tuaj. Tus kab mob tuaj yeem ua rau qaug dab peg thiab mob stroke.

Cov tsos mob muaj xws li:

• Kab mob Hlav uas mob heev dua (mob caj dab zuj zus)
• Lub cev qhuav dej
• Kev loj hlob qeeb
• Ua tsis tiav
• Qaug zog
• Qaug dab peg
• Ntuav

Kev ntsuam xyuas kab mob methylmalonic acidemia feem ntau yog ua los ntawm kev kuaj menyuam mos. Tsoomfwv Meskas Lub Tsev Haujlwm Saib Xyuas Kev Noj Qab Haus Huv thiab Tib Neeg tau hais kom ntsuas rau tus mob no thaum yug los vim tias kev paub ntxov thiab kho yog qhov pab tau.

Tej kev kuaj mob uas yuav ua tau los ntsuas tus mob no suav nrog:

• Kev kuaj kab mob ammonia
• Cov roj ntsha ntshav
• Ua kom tiav cov ntshav suav
• CT scan lossis MRI ntawm lub paj hlwb
• Cov theem hluav taws xob
• Kev tshuaj ntsuam caj ces
• Kev kuaj ntshav Methylmalonic acid
• Kev kuaj ntshav amino acid

Kev kho yog muaj cobalamin thiab carnitine ntxiv thiab noj zaub mov muaj protein tsawg. Kev tswj hwm tus menyuam cov zaub mov yuav tsum tau tswj kom zoo.

Yog tias cov tshuaj tsis pab, tus kws saib xyuas kev noj qab haus huv kuj tseem tuaj yeem qhia tawm cov zaub mov kom tsis txhob muaj cov tshuaj hu ua isoleucine, threonine, methionine, thiab valine.

Daim siab mob raum lossis lub raum (lossis ob qho tib si) tau pom tias yuav pab qee tus neeg mob. Cov kev hloov ntshav no muab lub cev nrog cov hlwb tshiab uas pab rhuav tshem methylmalonic acid txhua zaus.

Cov menyuam mos yuav tsis muaj sia nyob thawj thawj cov tsos mob los ntawm tus kab mob no. Cov tib neeg muaj sia nyob feem ntau muaj teeb meem nrog kev txhim kho lub paj hlwb, txawm tias qhov kev txhim kho li niaj zaus tuaj yeem tshwm sim.

Teeb meem yuav suav nrog:

• Coma
• Kev Tuag
• Raum tsis ua haujlwm
• Kev mob caj dab
• Cardiomyopathy
• Cov kab mob kis
• Kev ntshav siab

Nrhiav kev pab kho mob sai li sai tau yog tias koj tus menyuam muaj mob chua leeg thawj zaug.

Ntsib tus kws kho mob yog tias koj tus menyuam muaj cov paib ntawm:

• Poob-kev-txhawb
• Kev loj hlob qeeb

Kev noj zaub mov muaj protein tsawg tuaj yeem pab txo qis kev tawm tsam. Cov neeg muaj tus mob no yuav tsum zam cov neeg muaj mob uas kis tau zoo, xws li mob khaub thuas thiab mob khaub thuas.

Kev qhuab ntuas caj tej zaum yuav pab tau rau cov khub niam txiv uas muaj keeb kwm tsev neeg ntawm qhov kev tsis zoo no uas xav muaj me nyuam.

Qee zaum, nthuav cov kev kuaj menyuam mos tom qab thaum yug los, suav nrog ntsuas rau methylmalonic acidemia. Koj tuaj yeem nug koj tus kws khomob saib koj tus menyuam puas tau kuaj no.

Gallagher RC, Enns GM, Cowan TM, Mendelsohn B, Packman S. Aminoacidemias thiab organic acidemias. Hauv: Swaiman KF, Ashwal S, Ferriero DM, li al, eds. Swaiman's Pediatric NeurologyCov. 6 tus ed. Elsevier; 2017: chap 37.

Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM. Kev ua tsis taus ntawm cov metabolism hauv cov amino acids. Hauv: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Phau Ntawv ntawm PediatricsCov. 21st ed. Philadelphia, PA: Elsevier; 2020: cha 103.

S Madan-Khetarpal S, Arnold G. Kev qhia tshuaj rau caj ces tsis zoo thiab lub cev mob. Hauv: Zitelli BJ, McIntire SC, Nowalk AJ, eds. Zitelli thiab Davis 'Atlas Kev Kuaj Mob Rau Menyuam yausCov. 7 tus ed. Philadelphia, PA: Elsevier; 2018: chap 1.