IGalactosemia

IGalactosemia yimeko apho umzimba ungakwazi ukusebenzisa (ityibilika) iswekile elula galactose.

IGalactosemia sisifo esizuzwe njengelifa. Oku kuthetha ukuba kudluliswa kwiintsapho. Ukuba bobabini abazali baphethe ikopi engasebenziyo yemfuza enokubangela i-galactosemia, umntwana ngamnye kubo une-25% (1 in 4) ithuba lokuchaphazeleka nayo.

Zintathu iintlobo zesi sifo:

• Ukusilela kweGalactose-1 phosphate uridyl transferase (GALT): I-Classic galactosemia, eyona ndlela iqhelekileyo neyona inzima
• Ukusilela kwegalactose kinase (GALK)
• Ukusilela kwegalactose-6-phosphate epimerase (GALE)

Abantu abane-galactosemia abakwazi ukwahlula ngokupheleleyo iswekile galactose. IGalactose yenza isiqingatha se-lactose, iswekile efumaneka elubisini.

Ukuba usana olunegalactosemia lunikwa ubisi, izinto ezenziwe ngegalactose ziyakha kwinkqubo yosana. Ezi zinto zonakalisa isibindi, ingqondo, izintso namehlo.

Abantu abane-galactosemia abanakunyamezela naluphi na uhlobo lobisi (umntu okanye isilwanyana). Kufuneka bakulumkele ukutya okunye ukutya okune galactose.

Iintsana ezinegalactosemia zingabonisa iimpawu kwiintsuku zokuqala zobomi ukuba zitya ubisi olungumgubo okanye ubisi lwebele olunelactose. Iimpawu zinokubangelwa sisifo esibi segazi kunye neebhaktiriya E coli.

Iimpawu zegalactosemia zezi:

• Ukuxhuzula
• Ukucaphuka
• Ukuhamba
• Ukondla okungalunganga - umntwana uyala ukutya ubisi olungumgubo olunobisi
• Ukutyeba ubunzima
• Isikhumba esimthubi kunye namhlophe ngamehlo (jaundice)
• Ukuhlanza

Uvavanyo lokujonga i-galactosemia lubandakanya:

• Inkcubeko yegazi yosulelo lwebacteria (I-coli sepsis)
• Umsebenzi we-enzyme kwiiseli ezibomvu zegazi
• Iiketoni kumchamo
• Ukuxilongwa ngaphambi kokubeleka ngokulinganisa ngokuthe ngqo i-enzyme galactose-1-phosphate uridyl transferase
• "Ukunciphisa izinto" kumchamo wosana, kunye neswekile yegazi eqhelekileyo okanye esezantsi ngelixa usana lutyiswa ubisi lwebele okanye ubisi olungumgubo lwe-lactose

Ukuvavanywa kovavanyo olusandul 'ukuzalwa kwiindawo ezininzi kujonga i-galactosemia.

Iziphumo zovavanyo zingabonisa:

• Ii-amino acid kumchamo okanye iplasma
• Ukwandiswa kwesibindi
• Ulwelo esiswini
• Iswekile esezantsi yegazi

Abantu abakule meko kufuneka baluphephe lonke ubisi, iimveliso eziqukethe ubisi (kubandakanya ubisi olomileyo), kunye nokunye ukutya okunegalactose, ubomi babo bonke. Funda iilebheli zemveliso ukuqinisekisa ukuba wena okanye umntwana wakho onale meko akutyi ukutya okunegalactose.

Iintsana zinokondliwa:

• Ifomula yeSoy
• Enye ifomula engenasosi
• Ifomula esekwe kwinyama okanye iNutramigen (iprotein hydrolyzate formula)

Izongezo zeCalcium ziyacetyiswa.

Isiseko seGalactosemia - www.galactosemia.org

Abantu abafunyaniswe kuselithuba kwaye ngokungqongqo bayaziphepha iimveliso zobisi banokuphila ubomi obuqhelekileyo. Nangona kunjalo, ukukhubazeka kwengqondo okuncinci kunokukhula, nakubantu abaphepha i-galactose.

Ezi ngxaki zinokuphuhlisa:

• Iimpawu
• I-Cirrhosis yesibindi
• Ukulibaziseka kokukhula kwentetho
• Ixesha lokuya exesheni ngokungaqhelekanga, ukunciphisa ukusebenza kwama-ovari kukhokelela ekusileleni kwe-ovari kunye nokungachumi
• Ukukhubazeka kwengqondo
• Usulelo olunzima kwiibhaktheriya (I-coli sepsis)
• Iinyikima (ukushukuma) kunye nemisebenzi yeemoto engalawulekiyo
• Ukufa (ukuba kukho igalactose kwisidlo)

Fowunela umboneleli wakho wezempilo ukuba:

• Usana lwakho luneempawu zegalactosemia
• Unembali yosapho yegalactosemia kwaye ucinga ukuba nabantwana

Kuyanceda ukwazi imbali yosapho lwakho. Ukuba unembali yosapho ye-galactosemia kwaye ufuna ukuba nabantwana, ingcebiso ngemfuzo iya kukunceda uthathe izigqibo malunga nokukhulelwa kunye nokuvavanywa kokubeleka. Nje ukuba kwenziwe isifo se-galactosemia, iingcebiso ngemfuzo ziyacetyiswa kwamanye amalungu osapho.

Uninzi lwamazwe lujonga lonke usana lwegalactosemia. Ukuba uvavanyo olusandul 'ukuzalwa lubonisa ukuba kunokwenzeka i-galactosemia, kufuneka bayeke ukunika iimveliso zabo zobisi kwangoko kwaye babuze umboneleli wabo malunga nokuvavanywa kwegazi okunokwenziwa ukuqinisekisa ukuxilongwa kwegalactosemia.

Ukusilela kwe-Galactose-1-phosphate uridyl transferase; Ukusilela kweGalactokinase; Ukusilela kweGalactose-6-phosphate epimerase; IGALT; GALK; GALE; Ukuswela kwe-epimerase galactosemia; Ukusilela kwe-GALE; Uhlobo lweGalactosemia III; UDP-galactose-4; Uhlobo lweDuarte

• IGalactosemia

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