Methylmalonic acidemia

Methylmalonic acidemia ndi vuto lomwe thupi silingathe kuwononga mapuloteni ndi mafuta ena. Zotsatira zake ndi kuchuluka kwa chinthu chotchedwa methylmalonic acid m'magazi. Vutoli limaperekedwa kudzera m'mabanja.

Ndi chimodzi mwazinthu zingapo zomwe zimatchedwa "zolakwika zobadwa nazo zama metabolism."

Matendawa amapezeka kwambiri mchaka choyamba cha moyo. Ndi matenda osokoneza bongo. Izi zikutanthauza kuti jini lopunduka liyenera kupatsira mwanayo kuchokera kwa makolo onse.

Mwana wakhanda amene ali ndi vutoli amatha kufa asanamupeze. Methylmalonic acidemia imakhudza anyamata ndi atsikana chimodzimodzi.

Ana amatha kuwoneka achibadwa pobadwa, koma amakhala ndi zizindikilo akangoyamba kudya zomanga thupi zambiri, zomwe zimatha kuyambitsa matendawa. Matendawa amayambitsa khunyu komanso sitiroko.

Zizindikiro zake ndi izi:

• Matenda aubongo omwe amakula (encephalopathy)
• Kutaya madzi m'thupi
• Kuchedwa kwachitukuko
• Kulephera kukula bwino
• Kukonda
• Kugwidwa
• Kusanza

Kuyesedwa kwa methylmalonic acidemia nthawi zambiri kumachitika ngati gawo la mayeso obadwa kumene obadwa kumene. Dipatimenti ya Zaumoyo ndi Zantchito ku United States ikulimbikitsa kuwunika matendawa pakubadwa chifukwa kuwazindikira msanga ndikuthandizira.

Kuyesa komwe kungachitike kuti mupeze vutoli ndi monga:

• Mayeso a Amoniya
• Mpweya wamagazi
• Kuwerengera kwathunthu kwa magazi
• CT scan kapena MRI yaubongo
• Magulu a Electrolyte
• Kuyesedwa kwachibadwa
• Mayeso a magazi a Methylmalonic acid
• Mayeso a Plasma amino acid

Chithandizochi chimakhala ndi cobalamin ndi carnitine zowonjezerapo komanso zakudya zochepa zomanga thupi. Zakudya za mwana ziyenera kuyang'aniridwa mosamala.

Ngati zowonjezera sizikuthandizani, wothandizira zaumoyo amathanso kulangiza zakudya zomwe zimapewa zinthu zotchedwa isoleucine, threonine, methionine, ndi valine.

Kuika chiwindi kapena impso (kapena zonsezi) zawonetsedwa kuti zithandizira odwala ena. Izi zimapatsa thupi maselo atsopano omwe amathandizira kuwonongeka kwa methylmalonic acid mwachizolowezi.

Makanda sangapulumuke gawo lawo loyamba lazizindikiro za matendawa. Omwe amapulumuka nthawi zambiri amakhala ndi zovuta pakukula kwamanjenje, ngakhale kukula kwachidziwitso kumatha kuchitika.

Zovuta zingaphatikizepo:

• Coma
• Imfa
• Impso kulephera
• Pancreatitis
• Matenda a mtima
• Matenda opatsirana
• Matenda osokoneza bongo

Funani chithandizo chamankhwala nthawi yomweyo ngati mwana wanu akugwidwa khunyu koyamba.

Onani wothandizira ngati mwana wanu ali ndi zizindikiro za:

• Kulephera kukhala bwino
• Kuchedwa kwachitukuko

Zakudya zopanda mapuloteni zingathandize kuchepetsa ziwopsezo. Anthu omwe ali ndi vutoli ayenera kupewa omwe akudwala matenda opatsirana, monga chimfine ndi chimfine.

Upangiri wa chibadwa ungakhale wothandiza kwa mabanja omwe ali ndi mbiri yakubadwa kwa vutoli omwe akufuna kukhala ndi mwana.

Nthawi zina, kuwunika kumene kubadwa kumene kumachitika pakubadwa, kuphatikizapo kuwunika methylmalonic acidemia. Mutha kufunsa omwe amakupatsani ngati mwana wanu anali ndi zowonera izi.

Gallagher RC, Enns GM, Cowan TM, Mendelsohn B, Packman S. Aminoacidemias ndi organic acidemias. Mu: Swaiman KF, Ashwal S, Ferriero DM, et al, olemba. Swaiman's Pediatric Neurology. Lachisanu ndi chimodzi. Zowonjezera; 2017: mutu 37.

Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM. Zofooka zamagetsi zama amino acid. Mu: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, olemba. Nelson Textbook of Pediatrics. Wolemba 21. Philadelphia, PA: Elsevier; 2020: chap 103.

Madan-Khetarpal S, Arnold G. Matenda amtundu komanso zovuta za dysmorphic. Mu: Zitelli BJ, McIntire SC, Nowalk AJ, eds. Zitelli ndi Davis ’Atlas of Pediatric Physical Diagnosis. Wachisanu ndi chiwiri. Philadelphia, PA: Elsevier; 2018: mutu 1.