Galactosemia

Galactosemia ndimkhalidwe womwe thupi silingagwiritse ntchito (kusungunula) shuga galactose wosavuta.

Galactosemia ndi matenda obadwa nawo. Izi zikutanthauza kuti imadutsa kudzera m'mabanja. Ngati makolo onse atenga mtundu wosagwira ntchito womwe ungayambitse galactosemia, mwana wawo aliyense ali ndi mwayi 25% (1 mwa 4) wokhudzidwa nawo.

Pali mitundu itatu ya matendawa:

• Kulephera kwa Galactose-1 phosphate uridyl transferase (GALT): Classic galactosemia, mawonekedwe ofala kwambiri komanso owopsa
• Kuperewera kwa galactose kinase (GALK)
• Kuperewera kwa galactose-6-phosphate epimerase (GALE)

Anthu omwe ali ndi galactosemia amalephera kuthetsa shuga wamba galactose. Galactose amapanga theka la lactose, shuga wopezeka mkaka.

Ngati khanda lomwe lili ndi galactosemia lipatsidwa mkaka, zinthu zopangidwa kuchokera ku galactose zimakhazikika m'thupi la khandalo. Zinthu izi zimawononga chiwindi, ubongo, impso, ndi maso.

Anthu omwe ali ndi galactosemia sangathe kulekerera mkaka wamtundu uliwonse (wamunthu kapena nyama). Ayenera kusamala pakudya zakudya zina zomwe zili ndi galactose.

Makanda omwe ali ndi galactosemia amatha kuwonetsa zizindikiro m'masiku ochepa oyambilira a moyo ngati angadye mkaka kapena mkaka wa m'mawere womwe uli ndi lactose. Zizindikirozo zitha kukhala chifukwa chakudwala magazi kwambiri ndi mabakiteriya E coli.

Zizindikiro za galactosemia ndi:

• Kugwedezeka
• Kukwiya
• Kukonda
• Kudyetsa moperewera - mwana amakana kudya mkaka wokhala ndi mkaka
• Kulemera kolemera
• Khungu lachikaso ndi azungu amaso (jaundice)
• Kusanza

Mayeso owunika galactosemia ndi awa:

• Chikhalidwe cha magazi pamavuto abacteria (E coli sepsis)
• Zochita za enzyme m'maselo ofiira amwazi
• Maketoni mu mkodzo
• Matendawa asanabadwe poyesa kuyeza kwa enzyme galactose-1-phosphate uridyl transferase
• "Kuchepetsa zinthu" mu mkodzo wa khanda, komanso shuga wabwinobwino kapena wotsika magazi pamene khanda limadyetsedwa mkaka wa m'mawere kapena chilinganizo chokhala ndi lactose

Kuyesedwa kwatsopano kumene kubadwa m'maboma ambiri kumayang'ana galactosemia.

Zotsatira za mayeso zitha kuwonetsa:

• Amino acid mumkodzo kapena m'magazi am'magazi
• Kukulitsa chiwindi
• Zamadzimadzi pamimba
• Shuga wamagazi ochepa

Anthu omwe ali ndi vutoli ayenera kupewa mkaka wonse, zopangira mkaka (kuphatikiza mkaka wouma), ndi zakudya zina zomwe zimakhala ndi galactose, kwanthawi yonse. Werengani zolemba kuti muwone kuti inu kapena mwana wanu amene muli ndi vutoli simukudya zakudya zomwe zili ndi galactose.

Makanda amatha kudyetsedwa:

• Soy chilinganizo
• Njira ina yopanda lactose
• Njira yophika nyama kapena Nutramigen (puloteni hydrolyzate chilinganizo)

Mavitamini a calcium amalimbikitsidwa.

Galactosemia Foundation - www.galactosemia.org

Anthu omwe amapezeka msanga ndipo amapewa zopatsa mkaka atha kukhala moyo wamba. Komabe, kufooka pang'ono kwamaganizidwe kumatha kukula, ngakhale kwa anthu omwe amapewa galactose.

Zovuta izi zitha kukhala:

• Kupunduka
• Matenda a chiwindi
• Kukulitsa mawu
• Nthawi zosamba zosamba, kuchepa kwa ntchito kwa mazira ochulukitsa zomwe zimabweretsa kulephera kwamchiberekero komanso kusabereka
• Kulemala m'maganizo
• Matenda akulu ndi mabakiteriya (E coli sepsis)
• Kugwedezeka (kugwedezeka) ndi magalimoto osalamulirika
• Imfa (ngati pali galactose mu zakudya)

Imbani wothandizira zaumoyo wanu ngati:

• Mwana wanu ali ndi zizindikiro za galactosemia
• Muli ndi mbiri ya banja la galactosemia ndipo mukuganiza zokhala ndi ana

Ndizothandiza kudziwa mbiri ya banja lanu. Ngati muli ndi mbiri ya banja ya galactosemia ndipo mukufuna kukhala ndi ana, upangiri wamtunduwu ungakuthandizeni kupanga zisankho zokhudzana ndi pakati komanso kuyezetsa mayi asanabadwe. Akazindikira kuti galactosemia yachitika, upangiri wamtunduwu umalimbikitsidwa kwa ena pabanjapo.

Ambiri amati amawunika ana onse akhanda chifukwa cha galactosemia. Ngati mayeso omwe angobadwa kumene akuwonetsa kuthekera kwa galactosemia, ayenera kusiya kupatsa ana awo mkaka nthawi yomweyo ndikufunsa omwe amawapatsa za kuyesa magazi omwe angachitike kuti atsimikizire kuti ali ndi galactosemia.

Kulephera kwa Galactose-1-phosphate uridyl transferase; Kulephera kwa Galactokinase; Kulephera kwa Galactose-6-phosphate epimerase; GALT; GALK; GALE; Kusowa kwa Epimerase galactosemia; Kulephera kwa GALE; Mtundu wa Galactosemia wachitatu; UDP-galactose-4; Zosiyanasiyana za Duarte

• Galactosemia

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