IGalactosemia

IGalactosemia yisimo lapho umzimba ungakwazi ukusebenzisa khona (ukugaya) i-sugar galactose elula.

IGalactosemia yisifo esizuzwe njengefa. Lokhu kusho ukuthi kudluliselwa emindenini. Uma bobabili abazali bephethe ikhophi engasebenziyo yofuzo engadala i-galactosemia, ingane ngayinye inethuba lokuthinteka kuyo ngama-25% (1 koku-4).

Kunezinhlobo ezintathu zesifo:

• Ukushoda kweGalactose-1 phosphate uridyl transferase (GALT): I-Classic galactosemia, ifomu elijwayeleke kakhulu nelibi kakhulu
• Ukushoda kwe-galactose kinase (GALK)
• Ukuntuleka kwe-galactose-6-phosphate epimerase (GALE)

Abantu abane-galactosemia abakwazi ukwehlisa ngokuphelele i-sugar galactose elula. IGalactose yakha uhhafu owodwa we-lactose, ushukela otholakala obisini.

Uma usana olune-galactosemia lunikezwa ubisi, izinto ezenziwe nge-galactose ziyakha ohlelweni lwengane. Lezi zinto zilimaza isibindi, ubuchopho, izinso namehlo.

Abantu abane-galactosemia abakwazi ukubekezelela noma yiluphi uhlobo lobisi (olomuntu noma lwesilwane). Kumele baqaphele ngokudla okunye ukudla okuqukethe i-galactose.

Izinsana ezine-galactosemia zingabonisa izimpawu ezinsukwini ezimbalwa zokuqala zokuphila uma zidla ifomula noma ubisi lwebele oluqukethe i-lactose. Izimpawu zingabangelwa ukutheleleka kwegazi okungathi sína ngamagciwane E coli.

Izimpawu ze-galactosemia yilezi:

• Ukudlikizela
• Ukuthukuthela
• Imikhuba emibi
• Ukudla okungafanele - ingane yenqaba ukudla ifomula eliqukethe ubisi
• Ukuzuza kwesisindo okubi
• Isikhumba esiphuzi nabamhlophe bamehlo (i-jaundice)
• Ukuhlanza

Ukuhlolwa kokuhlola i-galactosemia kufaka:

• Isiko legazi lokutheleleka ngamagciwane (E coli sepsis)
• Umsebenzi we-enzyme kumaseli abomvu egazi
• Amaketoni emchameni
• Ukuxilongwa kokubeletha ngokulinganisa ngqo i-enzyme galactose-1-phosphate uridyl transferase
• "Ukunciphisa izinto" emchameni wosana, noshukela wegazi ojwayelekile noma ophansi ngenkathi usana lunikezwa ubisi lwebele noma ifomula eliqukethe i-lactose

Ukuhlolwa kokuhlolwa kwezingane ezisanda kuzalwa ezifundazweni eziningi kubheka i-galactosemia.

Imiphumela yokuhlola ingakhombisa:

• Ama-amino acid emchameni noma e-plasma yegazi
• Isibindi esandisiwe
• Uketshezi esiswini
• Ushukela wegazi ophansi

Abantu abanalesi simo kufanele bagweme lonke ubisi, imikhiqizo equkethe ubisi (kufaka phakathi ubisi olomile), nokunye ukudla okuqukethe i-galactose, impilo yonke. Funda amalebula womkhiqizo ukuqinisekisa ukuthi wena noma ingane yakho enalesi sifo anidli ukudla okuqukethe i-galactose.

Izinsana zingondliwa:

• Ifomula leSoy
• Enye ifomula engena-lactose
• Ifomula esekwe enyameni noma i-Nutramigen (ifomula ye-protein hydrolyzate)

Kunconywa izithasiselo ze-calcium.

Isisekelo seGalactosemia - www.galactosemia.org

Abantu abatholakala kusenesikhathi futhi begwema ngokuqinile imikhiqizo yobisi bangaphila impilo ejwayelekile. Kodwa-ke, ukukhubazeka kwengqondo okuncane kungakhula, ngisho nakubantu abagwema i-galactose.

Lezi zinkinga zingakhula:

• Isifo senkwethu
• I-cirrhosis yesibindi
• Ukuthuthuka kokukhuluma
• Isikhathi esingajwayelekile sokuya esikhathini, ukunciphisa ukusebenza kwama-ovari okuholela ekuhlulekeni kwe-ovari nasekungazali
• Ukukhubazeka kwengqondo
• Ukutheleleka okukhulu ngamagciwaneE coli sepsis)
• Ukuthuthumela (ukuthuthumela) nemisebenzi engalawuleki yemoto
• Ukufa (uma kune-galactose ekudleni)

Shayela umhlinzeki wakho wezempilo uma:

• Ingane yakho inezimpawu ze-galactosemia
• Unomlando womndeni we-galactosemia futhi ucabanga ukuba nezingane

Kuyasiza ukwazi umlando wakho womndeni. Uma unomlando womndeni we-galactosemia futhi ufuna ukuba nezingane, ukwelulekwa ngofuzo kuzokusiza wenze izinqumo mayelana nokukhulelwa nokuhlolwa kokubeletha. Lapho kutholakala ukuxilongwa kwe-galactosemia, ukwelulekwa ngezakhi zofuzo kuyanconywa kwamanye amalungu omndeni.

Amazwe amaningi ahlola zonke izingane ezisanda kuzalwa nge-galactosemia. Uma ukuhlolwa okusanda kuzalwa kukhombisa ukuthi kungenzeka yini kube ne-galactosemia, kufanele bayeke ukunikeza imikhiqizo yabo yobisi lwezinsana ngokushesha bese babuza abahlinzeki babo mayelana nokuhlolwa kwegazi okungenziwa ukuqinisekisa ukutholakala kwe-galactosemia.

Ukushoda kweGalactose-1-phosphate uridyl transferase; Ukushoda kweGalactokinase; Ukushoda kwe-Galactose-6-phosphate epimerase; GALT; GALK; IGALE; Ukushoda kwe-Epimerase galactosemia; Ukuntuleka kwe-GALE; Uhlobo lweGalactosemia III; UDP-galactose-4; Ukuhluka kwe-Duarte

• IGalactosemia

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