Galactosemia

Galactosemia ke boemo boo 'mele o sitoang ho bo sebelisa (metabolism) tsoekere galactose e bonolo.

Galactosemia ke lefu le futsitsoeng. Sena se bolela hore e fetisoa ke malapa. Haeba batsoali ka bobeli ba na le kopi e sa sebetseng ea lefutso e ka bakang galactosemia, e mong le e mong oa bana ba bona o na le monyetla oa ho ameha ka eona ka 25% (1 ho 4).

Ho na le mefuta e meraro ea lefu lena:

• Ho haella ha Galactose-1 phosphate uridyl transferase (GALT): Classic galactosemia, foromo e tloaelehileng le e matla ka ho fetisisa
• Ho haella ha galactose kinase (GALK)
• Khaello ea galactose-6-phosphate epimerase (GALE)

Batho ba nang le galactosemia ha ba khone ho senya botlalo galactose ea tsoekere. Galactose e etsa halofo ea lactose, e leng tsoekere e fumanoang lebeseng.

Haeba lesea le nang le galactosemia le fuoa lebese, lintho tse entsoeng ka galactose lia haheha tsamaisong ea lesea. Lintho tsena li senya sebete, boko, liphio le mahlo.

Batho ba nang le galactosemia ha ba mamelle mofuta ofe kapa ofe oa lebese (motho kapa phoofolo). Ba tlameha ho ba hlokolosi ka ho ja lijo tse ling tse nang le galactose.

Masea a nang le galactosemia a ka bonts'a matšoao matsatsing a pele a bophelo haeba a ka ja lebese le phofo kapa lebese le nang le lactose. Matšoao a ka ba ka lebaka la tšoaetso e tebileng ea mali le libaktheria E coli.

Matšoao a galactosemia ke:

• Ho tsitsinyeha
• Ho teneha
• Lethargy
• Ho fepa hampe - lesea le hana ho ja lebese le phofo le nang le lebese
• Ho nona hampe
• Letlalo le mosehla le makhooa a mahlo (jaundice)
• Ho hlatsa

Liteko tsa ho hlahloba galactosemia li kenyelletsa:

• Tloaelo ea mali bakeng sa tšoaetso ea baktheria (E coli sepsis)
• Ketsahalo ea enzyme liseleng tse khubelu tsa mali
• Ketone ka morong
• Tlhahlobo ea bakhachane ka ho lekanya ka kotloloho enzyme galactose-1-phosphate uridyl transferase
• "Ho fokotsa lintho" moroto oa lesea, le tsoekere e tloaelehileng kapa e tlase ea mali ha lesea le ntse le fepuoa lebese la lebese kapa lebese le nang le lactose

Liteko tsa ho hlahloba masea a sa tsoa tsoaloa linaheng tse ngata li hlahloba galactosemia.

Liphetho tsa liteko li ka bonts'a:

• Li-amino acid morong kapa lero la mali
• Sebete se atolositsoeng
• Maro ka mpeng
• Tsoekere e tlase maling

Batho ba nang le boemo bona ba tlameha ho qoba lebese lohle, lihlahisoa tse nang le lebese (ho kenyeletsoa lebese le ommeng), le lijo tse ling tse nang le galactose, bophelo bohle. Bala mangolo a sehlahisoa ho etsa bonnete ba hore uena kapa ngoana oa hau ea nang le bothata bona ha le je lijo tse nang le galactose.

Masea a ka feptjoa:

• Mokelikeli oa Soy
• Morero o mong o se nang lebese
• Morero o entsoeng ka nama kapa Nutramigen (protheine ea hydrolyzate formula)

Ho khothalletsoa li-supplement tsa calcium.

Motheo oa Galactosemia - www.galactosemia.org

Batho ba fumanoeng kapele mme ba qoba ka tieo lihlahisoa tsa lebese ba ka phela bophelo bo tloaelehileng. Leha ho le joalo, kholofalo e bobebe ea kelello e ka ba teng, le ho batho ba qobang galactose.

Mathata ana a ka hlaha:

• Likotsi
• Cirrhosis ea sebete
• Nts'etsopele ea puo e liehang
• Linako tse sa tloaelehang tsa ho ilela khoeli, ho fokotsa ts'ebetso ea mae a bomme a lebisang ho hloleheng ha mahe le ho hloka thari
• Bokooa ba kelello
• Tšoaetso e matla ea libaktheriaE coli sepsis)
• Ho thothomela (ho thothomela) le mesebetsi ea makoloi e sa laoleheng
• Lefu (haeba ho na le galactose lijong)

Bitsa mofani oa tlhokomelo ea bophelo haeba:

• Lesea la hau le na le matšoao a galactosemia
• U na le nalane ea lelapa ea galactosemia mme u nahana ho ba le bana

Ho bohlokoa ho tseba nalane ea lelapa la hau. Haeba u na le nalane ea lelapa ea galactosemia mme u batla ho ba le bana, tlhabollo ea lefutso e tla u thusa ho etsa liqeto ka boimana le tlhahlobo ea bakhachane. Hang ha ho fumanoa hore galactosemia e entsoe, tlhabollo ea lefutso e khothaletsoa litho tse ling tsa lelapa.

Linaheng tse ngata ho hlahlojoa masea ohle a sa tsoa tsoaloa bakeng sa galactosemia. Haeba tlhahlobo ea lesea le sa tsoa tsoaloa e bontša galactosemia e ka bang teng, ba lokela ho emisa ho fa masea a bona lihlahisoa tsa lebese hanghang mme ba botse mofani oa bona ka ho etsa liteko tsa mali tse ka etsoang ho netefatsa hore ho na le galactosemia.

Khaello ea Galactose-1-phosphate uridyl transferase; Khaello ea Galactokinase; Khaello ea Galactose-6-phosphate epimerase; MOLEMO; SEBETSA; GALE; Khaello ea Epimerase galactosemia; Khaello ea GALE; Mofuta oa III oa Galactosemia; UDP-galactose-4; Mofuta o mong oa Duarte

• Galactosemia

Berry GT. Galactosemia ea khale le galactosemia ea bongaka. 2000 Feb 4 [E ntlafalitsoe 2017 Mar 9]. Ka: Adam MP, Ardinger HH, Pagon RA, et al, eds. Litlhahlobo [Inthanete]. Seattle (WA): Univesithi ea Washington, Seattle; 1993-2019. PMID: 20301691 www.ncbi.nlm.nih.gov/pubmed/20301691.

Bonnardeaux A, Bichet DG. Mathata a futsitsoeng a renal tubule. Ka: Skorecki K, Chertow GM, Marsden PA, Taal MW, Yu ASL, li-eds. Brenner le Rector ea Liphio. 10th ed. Philadelphia, PA: Elsevier; 2016: khaolo ea 45.

Broomfield A, Brain C, Grunewald S. Galactosaemia: tlhahlobo, taolo le sephetho sa nako e telele. Lingaka le Bophelo ba Bana. 2015: 25 (3); 113-118 (Khatisitsoeng) www.paediatricsandchildhealthjournal.co.uk/article/S1751-7222(14)00279-0/pdf.

Gibson KM, Pearl PL. Liphoso tsa tlhaho ea metabolism le tsamaiso ea methapo. Ka: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL. Neurology ea Bradley ho Tloaelo ea Bongaka. La 7th. Philadelphia, PA: Elsevier; 2016: khaolo ea 91.

Kishnani PS, Chen YT. Liphoso tsa metabolism ea lik'habohaedreite. Ka: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, bahlophisi. Buka ea Nelson ea Pediatrics. La 21 Ed. Philadelphia, PA: Elsevier; 2020: khaolo ea 105.

Maitra A. Mafu a bongoana le bongoana. Ka: Kumar V, Abbas AK, Aster JC, bahlophisi. Robbins le Cotran Pathologic Motheo oa Mafu. La 9th. Philadelphia, PA: Elsevier Saunders; 2015: khaolo ea 10.