Maple syrup cuta na fitsari

Cutar Maple syrup (MSUD) cuta ce da jiki ba zai iya lalata wasu ɓangarorin sunadarai ba. Fitsarin mutanen da ke wannan yanayin na iya wari kamar maple syrup.

Cutar Maple syrup (MSUD) gadon ta ne, wanda ke nufin an yada ta cikin dangi. Lalacewa ce daga cikin 1 daga 3 genes. Mutanen da ke da wannan yanayin ba za su iya fasa amino acid leucine, isoleucine, da valine ba. Wannan yana haifar da tarin waɗannan sunadarai a cikin jini.

A cikin mummunan yanayi, MSUD na iya lalata kwakwalwa yayin lokacin damuwa na jiki (kamar kamuwa da cuta, zazzabi, ko rashin cin abinci na dogon lokaci).

Wasu nau'ikan MSUD suna da sauki ko kuma su zo su tafi. Koda a cikin mafi sauƙin tsari, maimaita lokutan damuwa na jiki na iya haifar da lahani na ƙwaƙwalwa da ƙananan matakan leucine don haɓakawa.

Kwayar cutar ta wannan cuta ta hada da:

• Coma
• Matsalolin ciyarwa
• Rashin nutsuwa
• Kamawa
• Fitsarin da ke kamshi kamar mangwaron maple
• Amai

Ana iya yin waɗannan gwaje-gwajen don bincika wannan cuta:

• Plasma amino acid gwajin
• Fitsarin kwayoyin acid
• Gwajin kwayoyin halitta

Za a sami alamun ketosis (gina ƙwayoyin ketones, wani samfuri na mai mai ƙonawa) da yawan asid a cikin jini (acidosis).

Lokacin da aka gano yanayin, kuma yayin lokuta, magani ya ƙunshi cin abinci mara ƙarancin furotin. Ruwa, sugars, da kuma wani lokacin ana bada kitse ta jijiya (IV). Dialysis ta cikin ciki ko jijiya za a iya yi don rage matakin abubuwa mara kyau a jinin ku.

Jiyya na dogon lokaci yana buƙatar cin abinci na musamman. Ga jarirai, abincin ya hada da tsari mai ƙarancin amino acid leucine, isoleucine, da valine. Mutanen da ke da wannan yanayin dole ne su kasance cikin ƙarancin abinci a cikin waɗannan amino acid ɗin na rayuwa.

Yana da matukar mahimmanci a bi wannan abincin koyaushe don hana lalacewar jijiyoyi (jijiya). Wannan yana buƙatar yawan gwajin jini da kulawa ta kusa ta likitan abinci da likita, da haɗin kai daga iyayen yara da yanayin.

Wannan cutar na iya zama barazanar rai idan ba a magance ta ba.

Koda tare da maganin abinci, yanayi mai wahala da rashin lafiya na iya haifar da babban matakin wasu amino acid. Mutuwa na iya faruwa yayin waɗannan aukuwa. Tare da tsauraran magani na abinci, yara sun girma har sun girma kuma suna iya kasancewa cikin ƙoshin lafiya.

Wadannan rikitarwa na iya faruwa:

• Lalacewar jijiyoyin jiki
• Coma
• Mutuwa
• Rashin hankali

Kira mai kula da lafiyar ku idan kuna da tarihin iyali na MSUD kuma kuna shirin fara iyali. Hakanan kira mai ba da sabis kai tsaye idan kana da ɗa sabon haihuwa wanda ke da alamun cutar fitsarin Maple syrup.

Ana ba da shawara kan kwayar halitta ga mutanen da suke son haihuwa da kuma waɗanda ke da tarihin iyali na cutar Mazilar fitsari. Yawancin jihohi yanzu suna bincikar duk jarirai da gwajin jini don MSUD.

Idan gwajin nunawa ya nuna cewa jaririn na iya samun MSUD, ya kamata a yi gwajin jini na matakan amino acid yanzun nan don tabbatar da cutar.

MSUD

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 Neurology na Yara: Ka'idoji da Ayyuka. Na 6 ed. Philadelphia, PA: 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.

Merritt JL, Gallagher RC. Kurakuran da aka haifa na carbohydrate, ammonia, amino acid, da kuma kwayoyin acid metabolism. A cikin: Gleason CA, Juul SE, eds. Cututtukan Avery na Jariri. 10 ed. Philadelphia, PA: Elsevier; 2018: babi na 22.