Methylmalonic acidemia

Methylmalonic acidemia cuta ce da jiki baya iya fasa wasu sunadarai da mai. Sakamakon shine tara wani abu da ake kira methylmalonic acid a cikin jini. Wannan yanayin ya wuce ta cikin dangi.

Yana daya daga cikin yanayi da yawa da ake kira "kuskuren da aka haife shi na rayuwa."

Ana yawan gano cutar a shekarar farko ta rayuwa. Rashin lafiya ne na rashin lafiyar jiki. Wannan yana nufin dole ne a ba da cikakkiyar kwayar halitta zuwa ga ɗan daga iyayen biyu.

Wani jariri da ke cikin wannan yanayin mai wuya na iya mutuwa kafin a gano shi. Methylmalonic acidemia yana shafar samari da 'yan mata daidai.

Yara na iya zama na al'ada yayin haihuwa, amma suna ci gaba da bayyanar cututtuka da zarar sun fara cin karin furotin, wanda zai iya haifar da yanayin ya zama mafi muni. Cutar na iya haifar da kamuwa da shanyewar jiki.

Kwayar cutar sun hada da:

• Cututtukan kwakwalwa da ke taɓarɓarewa (ciwan encephalopathy)
• Rashin ruwa
• Ci gaban jinkiri
• Rashin cin nasara
• Rashin nutsuwa
• Kamawa
• Amai

Ana yin gwajin methylmalonic acidemia a matsayin wani ɓangare na gwajin gwajin haihuwa. Ma'aikatar Lafiya da Ayyukan Dan Adam ta Amurka ta ba da shawarar a binciki wannan yanayin a yayin haihuwa saboda ganowa da magani da wuri yana da amfani.

Gwaje-gwajen da za'a iya yi don tantance wannan yanayin sun haɗa da:

• Gwajin ammonia
• Iskar gas
• Kammala lissafin jini
• CT scan ko MRI na kwakwalwa
• Matakan lantarki
• Gwajin kwayoyin halitta
• Gwajin jini na Methylmalonic acid
• Plasma amino acid gwajin

Magani ya kunshi sinadarin cobalamin da carnitine da abinci mai gina jiki. Dole ne a sarrafa abincin yaron sosai.

Idan kari bai taimaka ba, mai bada sabis na kiwon lafiya na iya bayar da shawarar abinci wanda zai guji abubuwa da ake kira isoleucine, threonine, methionine, da valine.

Hanya ko dashen koda (ko duka) an nuna don taimaka wa wasu marasa lafiya. Wadannan dashewa suna baiwa jiki sabbin kwayoyi wadanda suke taimakawa wajen lalata methylmalonic acid kullum.

Jarirai ba za su iya rayuwa daga farkon alamun alamun cutar daga wannan cutar ba. Wadanda suka rayu galibi suna da matsaloli tare da ci gaban tsarin juyayi, kodayake ci gaban ilimin al'ada na iya faruwa.

Matsaloli na iya haɗawa da:

• Coma
• Mutuwa
• Rashin koda
• Pancreatitis
• Ciwon zuciya
• Sake kamuwa da cututtuka
• Hypoglycemia

Nemi agajin gaggawa yanzunnan idan yaronku ya kamu da ciwon siga a karon farko.

Duba mai ba da sabis idan ɗanka na da alamun:

• Rashin-ci gaba
• Ci gaban jinkiri

Abincin mai ƙarancin furotin na iya taimakawa rage yawan hare-hare. Mutanen da ke da wannan yanayin ya kamata su guji waɗanda ke rashin lafiya da cututtuka masu saurin yaɗuwa, kamar sanyi da mura.

Bayar da shawara game da kwayar halitta na iya taimaka wa ma'aurata da ke da tarihin iyali na wannan matsalar da suke son haihuwar.

Wani lokaci, fadada sabon binciken haihuwa ana yin sa ne yayin haihuwa, gami da yin bincike kan methylmalonic acidemia. Kuna iya tambayar mai ba ku ko yaranku sun yi wannan gwajin.

Gallagher RC, Enns GM, Cowan TM, Mendelsohn B, Packman S. Aminoacidemias da kwayoyin acidemias. A cikin: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. Swaiman’s Pediatric Neurology. Na 6 ed. Elsevier; 2017: babi na 37.

Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM. Laifi a cikin metabolism na amino acid. A cikin: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Littafin koyar da ilimin yara. 21st ed. Philadelphia, PA: Elsevier; 2020: babi na 103.

Madan-Khetarpal S, Arnold G. Rashin lafiyar kwayoyin halitta da yanayin dysmorphic. A cikin: Zitelli BJ, McIntire SC, Nowalk AJ, eds. Zitelli da Davis 'Atlas na Ciwon Lafiyar Jiki na Yara. 7th ed. Philadelphia, PA: Elsevier; 2018: babi na 1.