Methylmalonic acidemia

I-Methylmalonic acidemia sisifo apho umzimba ungenakho ukophula iiproteni namafutha athile. Isiphumo kukwakhiwa kwento ebizwa ngokuba yi-methylmalonic acid egazini. Le meko idluliselwa kwiintsapho.

Ngenye yeemeko ezininzi ezibizwa ngokuba "yimpazamo yokuzalwa kwemetabolism."

Esi sifo sihlala sifunyaniswa kunyaka wokuqala wobomi. Sisifo esibuhlungu sokungazinzi emzimbeni. Oku kuthetha ukuba ufuzo olungalunganga kufuneka ludluliselwe emntwaneni kubazali bobabini.

Usana olusandul 'ukuzalwa olunale meko inqabileyo lunokufa ngaphambi kokuba lufunyaniswe. I-Methylmalonic acidemia ichaphazela abafana namantombazana ngokulinganayo.

Iintsana zinokubonakala ziqhelekile ekuzalweni, kodwa ziba neempawu nje ukuba ziqale ukutya iiprotein ezininzi, ezinokubangela imeko ibe mandundu. Esi sifo sinokubangela ukuxhuzula nokubetha.

Iimpawu zibandakanya:

• Isifo sobuchopho esiba mandundu (encephalopathy)
• Ukuphelelwa ngamanzi emzimbeni
• Ukulibaziseka kophuhliso
• Ukungaphumeleli
• Ukuhamba
• Ukuxhuzula
• Ukuhlanza

Ukuvavanyelwa i-methylmalonic acidemia kuhlala kwenziwa njengenxalenye yovavanyo lokuzalwa ngokutsha. Isebe laseMelika laseMelika lezeMpilo kunye neNkonzo yoLuntu licebisa ukuba kuhlolwe le meko xa kuzalwa kuba ukufunyanwa kwangoko kunye nonyango kuyanceda.

Uvavanyo olunokwenziwa ukufumanisa le meko lubandakanya:

• Uvavanyo lwe-ammonia
• Iigesi zegazi
• Gcwalisa ubalo lwegazi
• I-CT scan okanye iMRI yengqondo
• Amanqanaba e-Electrolyte
• Uvavanyo lwemfuzo
• Uvavanyo lwegazi lweMethylmalonic acid
• Uvavanyo lwePlasma amino acid

Unyango luqukethe i-cobalamin kunye ne-carnitine supplements kunye nokutya okuneprotein ephantsi. Ukutya komntwana kufuneka kulawulwe ngononophelo.

Ukuba izongezo azincedi, umboneleli wezempilo angacebisa ngokutya okuthintela izinto ezibizwa ngokuba yi-isoleucine, threonine, methionine kunye ne-valine.

Ukufakelwa kwesibindi okanye izintso (okanye zombini) kubonisiwe ukunceda ezinye izigulana. Olu fakelo lubonelela umzimba ngeeseli ezintsha ezinceda ukuphazamiseka kwemethylmalonic acid ngesiqhelo.

Iintsana zisenokungaphili kwisiqendu sokuqala seempawu zesi sifo. Abo basindayo bahlala beneengxaki kuphuhliso lwenkqubo yemithambo-luvo, nangona ukukhula okuqhelekileyo kwengqondo kunokwenzeka.

Iingxaki zinokubandakanya:

• Coma
• Ukufa
• Ukungaphumeleli kwezintso
• Ipancreatitis
• Cardiomyopathy
• Izifo ezenzeka rhoqo
• Hypoglycemia

Funa uncedo lwezonyango kwangoko ukuba umntwana wakho uxhukile okokuqala.

Jonga umboneleli ukuba umntwana wakho uneempawu zoku:

• Ukungaphumeleli
• Ukulibaziseka kophuhliso

Ukutya okuneproteni encinci kunokunceda ukunciphisa inani lohlaselo. Abantu abakule meko kufuneka babaphephe abo bagula zizifo ezosulelayo, ezinjengomkhuhlane kunye nomkhuhlane.

Ukucebisa ngemfuza kunokuba luncedo kwizibini ezinembali yosapho kwesi sifo abanqwenela ukuba nomntwana.

Ngamanye amaxesha, ukwanda kovavanyo olusandul 'ukuzalwa lwenziwa xa kuzalwa, kubandakanya ukuvavanywa kwe-methylmalonic acidemia. Ungabuza umboneleli wakho ukuba umntwana wakho unalo mboniso.

IGallagher RC, i-Enns GM, iCowan TM, iMendelsohn B, iPackman S.Aminoacidemias kunye neeacidemias ze-organic. Ku: Swaiman KF, Ashwal S, Ferriero DM, et al, ii-eds. I-Swaiman's Pediatric Neurology. Umhla wesi-6. Elsevier; Ngo-2017: isahluko 37.

IKliegman RM, iSt. Geme JW, iBlum NJ, i-Shah SS, iTasker RC, uWilson KM. Iziphene kwimetabolism yeeamino acid. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla wama-21. IPhiladelphia, PA: Elsevier; 2020: isahl. 103.

UMadan-Khetarpal S, uArnold G.Ukuphazamiseka kwemfuza kunye neemeko zedysmorphic. Ku: Zitelli BJ, McIntire SC, Nowalk AJ, ii-eds. UZitelli no-Davis ’Atlas of Pediatric Physical Diagnosis. Umhla wesi-7. IPhiladelphia, PA: Elsevier; I-2018: isahluko 1.