Galactosemia

Galactosemia waa xaalad jirku uusan awoodin inuu isticmaalo (dheef-shiid kiimikaad) kansarka fudud ee galactose.

Galactosemia waa cillad la iska dhaxlo. Tan macnaheedu waxa weeye inay u sii gudbiso qoysaska. Haddii labada waalidba ay wataan nuqul aan shaqeynayn oo hidda-wadaha ah oo sababi kara galactosemia, mid kasta oo ka mid ah carruurtoodu waxay leeyihiin 25% (1kiiba 4) fursadda ah inay ku dhacdo.

Waxaa jira 3 nooc oo cudurka ah:

• Galactose-1 fosfate uridyl transferase (GALT) yaraanta: Galactosemia caadiga ah, qaabka ugu caansan uguna daran
• Yaraanta galactose kinase (GALK)
• Yaraanta galactose-6-fosfate epimerase (GALE)

Dadka galactosemia qaba ma awoodaan inay si buuxda u dumiyaan galactose sonkorta fudud. Galactose wuxuu sameeyaa nus ka mid ah laktoos, sonkorta laga helo caanaha.

Haddii dhallaanka qaba galactosemia la siiyo caano, walxaha laga sameeyo galactose waxay ku soo baxaan nidaamka ilmaha. Waxyaabahani waxay waxyeeleeyaan beerka, maskaxda, kelyaha, iyo indhaha.

Dadka galactosemia qaba uma dulqaadan karaan nooc kasta oo caano ah (dad iyo duunyo). Waa inay ka taxaddaraan cunista cuntooyinka kale ee ay ku jirto galactose.

Dhallaanka qaba galactosemia waxay muujin karaan astaamo maalmaha ugu horreeya noloshooda haddii ay cunaan caano ama caano naas oo ay ku jiraan lactose. Calaamadaha lagu garto waxaa sababi kara infekshan dhiig oo halis ah oo ku dhaca bakteeriyada E coli.

Calaamadaha cudurka galactosemia waa:

• Gariir
• Xanaaq
• Daallan
• Quudin liidata - ilmaha ayaa diidaya inuu cuno caanobooraha ay ku jirto caano
• Miisaanka oo kordha
• Maqaarka huruudda ah iyo kuwa cad ee indhaha (cagaarshow)
• Matagid

Tijaabooyinka lagu hubinayo galactosemia waxaa ka mid ah:

• Dhaqanka dhiigga ee infekshanka bakteeriyada (E coli sepsis)
• Waxqabadka Enzyme ee unugyada dhiigga cas
• Ketones ku jira kaadida
• Ciladda dhalmada ka hor si toos ah loo cabbiro enzyme galactose-1-phosphate uridyl transferase
• "Yaraynta walxaha" kaadida ilmaha, iyo sonkorta dhiiga oo caadi ah ama hooseysa inta cunuga la siinayo caanaha naaska ama caano ay ku jirto laaktoos

Tijaabooyinka baaritaanka dhallaanka cusub ee gobollo badan ayaa laga hubiyaa galactosemia.

Natiijooyinka baaritaanka waxaa laga yaabaa inay muujiyaan:

• Amino acids ku jira kaadida ama dhiigga plasma
• Beerka oo weynaaday
• Dheecaanka caloosha
• Sonkorta dhiigga oo hooseysa

Dadka xaaladan qaba waa inay iska ilaaliyaan caanaha oo dhan, waxyaabaha ay ku jiraan caano (oo ay ku jiraan caano qalalan), iyo cuntooyinka kale ee ku jira galactose, nolosha. Akhriso sumadaha alaabta si aad u hubiso in adiga ama cunugaaga qaba xaaladdu aadan cunin cunnooyinka ay ku jiraan galactose.

Dhallaanka waa la quudin karaa:

• Foormulaa Soy
• Qaacido kale oo ah laaktoos-la'aan
• Foormulada hilibka ku saleysan ama Nutramigen (borotiinka hydrolyzate formula)

Kaalsiyamka ayaa lagugula talinayaa.

Aasaaska Galactosemia - www.galactosemia.org

Dadka goor hore la ogaado oo si adag uga fogaada wax soo saarka caanaha waxay ku noolaan karaan nolol caadi ah. Si kastaba ha noqotee, cillad maskaxeed oo fudud ayaa laga yaabaa inay ku dhacdo, xitaa dadka iska ilaaliya galactose.

Dhibaatooyinkan ayaa soo bixi kara:

• Indho-beelka indhaha
• Cirrhosis ee beerka
• Dib udhaca hadalka
• Xilliyada caadada oo aan joogto ahayn, shaqada ugxan yaraanta oo keenta ugxan-yaraanta iyo madhalaysnimo
• Naafada maskaxda
• Infekshin daran oo bakteeriya ah (E coli sepsis)
• Gariir (gariir) iyo hawlo aan koontarooli karin
• Dhimasho (haddii galactose ku jiro cuntada)

Wac daryeel caafimaad bixiyaha haddii:

• Dhallaankaagu wuxuu leeyahay astaamaha galactosemia
• Waxaad leedahay taariikh qoys oo ah galactosemia waxaadna tixgelinaysaa inaad carruur dhasho

Waa waxtar leh in la ogaado taariikhda qoyskaaga. Haddii aad leedahay taariikh qoys oo ah galactosemia oo aad rabto inaad carruur dhasho, la-talinta hidda-socodka ayaa kaa caawin doonta inaad go'aan ka gaarto uurka iyo baaritaanka uurka. Marka la ogaado cudurka galactosemia, latalinta hidaha ayaa lagula talinayaa xubnaha kale ee qoyska.

Gobollo badan ayaa baaritaan ku sameeya dhallaanka cusub ee galactosemia. Haddii baaritaanka cusubi uu muujiyo suurtagalnimada galactosemia, waa inay joojiyaan inay siiyaan waxyaabaha caanaha dhallaanka ah isla markaasna weydiiyaan adeeg bixiyahooda baaritaanka dhiigga ee la sameyn karo si loo xaqiijiyo ogaanshaha cudurka galactosemia.

Galactose-1-fosfate uridyl yaraanta gudbinta; Yaraanshaha Galactokinase; Galactose-6-fosfate epimerase yaraanta; GALT; GALK; GALE; Galactosemia yaraanta epimerase; Yaraanta GALE; Nooca Galactosemia III; UDP-galactose-4; Duarte nooc

• Galactosemia

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