Galactosemia

Galactosemia o se tuutuuga lea e le mafai ai e le tino ona faʻaaoga (metabolize) le faigofie suka galactose.

Galactosemia o se faʻamaʻi tofi. O lona uiga e pasi mai i aiga. A faʻapea o matua uma o loʻo tauʻavea le le galue le kopi o le kenera e mafai ona mafua ai galactosemia, o a latou fanau uma e 25% (1 i le 4) avanoa e aʻafia ai.

E 3 ituaiga o faʻamaʻi:

• Galactose-1 phosphate uridyl transferase (GALT) le lava: Galactosemia masani, o le sili ona taatele ma sili ona ogaoga foliga
• Le lava o galactose kinase (GALK)
• Le lava o galactose-6-phosphate epimerase (GALE)

O tagata e maua i le galactosemia e le mafai ona faʻamaeʻaina atoatoa le galactose suka faigofie. Galactose e maua ai le tasi afa o lactose, o le suka maua i le susu.

Afai o se pepe ma galactosemia e avatua i ai susu, o mea e fai mai i le galactose e fausiaina i luga o le tamaititi. O nei vailaʻau e faʻaleagaina le ate, faiʻai, fatugaʻo, ma mata.

Tagata ma galactosemia le mafai onosaia soʻo se ituaiga o susu (tagata poʻo manu). E tatau ona latou faʻaeteete i le 'aiina o isi meaʻai e iai le galactose.

Tamaiti ma galactosemia mafai faʻaalia auga i ni nai aso muamua o le olaga pe afai latou te 'ai fua poʻo le susu susu o loʻo i ai lactose. O faʻailoga e ono mafua mai i se siama o le toto i siama E coli.

Faʻailoga o le galactosemia o:

• Taupulega
• Ita
• Faʻanoanoa
• Le lelei le fafagaina - musu le pepe e 'ai fua o loʻo iai susu
• Leaga maua mamafa
• Paʻepaʻe samasama ma papaʻe o mata (jaundice)
• Talosaga

Suʻega e siaki ai le galactosemia aofia ai:

• Toto aganuʻu mo siama siama (E coli sepsis)
• Gaioiga ole enzyme i sela mumu mumu
• Ketones i le miaga
• Prenatal diagnose e ala i le fua saʻo o le enzyme galactose-1-phosphate uridyl transferase
• "Faʻaitiitia vailaʻau" i le pepe mimi, ma masani pe maualalo le suka i le taimi o le pepe o loʻo fafagaina susu susu poʻo se metotia o loʻo i ai lactose

O suʻesuʻega ole suʻesuʻe fou ile tele o setete e siaki ai le galactosemia.

E mafai ona faʻaalia iʻuga o suʻega:

• Amino acid i le urine poʻo le plasma toto
• Faʻateleina le ate
• Sua i le manava
• Maualalo suka suka

Tagata e iai le faʻamaʻi lea e tatau ona alo ese uma susu, oloa e iai susu (e aofia ai susu mamago), ma isi meaʻai e iai galactose, mo le olaga atoa. Faitau faʻailoga oloa e mautinoa ai o oe poʻo lau tama e iai le faʻamaʻi e le o 'ai i meaʻai e iai le galactose.

Tamaiti mafai ona fafagaina:

• Faʻamatalaga soy
• Le isi lactose-leai fua faʻatumu
• Fuafua-faʻavae fua poʻo Nutramigen (o se polotini hydrolyzate fua)

Fautuaina kalisiu faʻaopoopo.

Galactosemia Foundation - www.galactosemia.org

O tagata e vave iloa ma matua aloese lava mai oloa o le susu e mafai ona ola i se olaga masani. Peitaʻi, e ono tupu le faʻaletonu o le mafaufau, e oʻo lava i tagata latou te 'aloʻalo ile galactose.

O nei faʻafitauli e mafai ona atiaʻe:

• Cataract
• Cirrhosis o le ate
• Faʻatupuina le tautala tautala
• Le masani ai taimi masina, faʻaititia galuega o ovaries tau atu i ovarian toilalo ma infertility
• E le atoatoa le mafaufau
• Matuia siama i siama (E coli sepsis)
• Faʻafilemu (luluina) ma le faʻatonutonuina afi afi
• Oti (pe afai e i ai galactose i le taumafataga)

Valaʻau lau fomaʻi pe a fai:

• O lau pepe ua maua i faʻamaʻi galactosemia
• E i ai sau talaʻaga aiga o galactosemia ma o loʻo mafaufau e fai sau fanau

E aoga le iloa o lou aiga talafaasolopito. Afai e iai sau talaʻaga i le aiga o le galactosemia ma e manaʻo e fai sau fanau, o le a fesoasoani le faʻatalanoaga o le kenera ia oe i le faia o au filifiliga e uiga i le maʻitaga ma le taimi e fanau ai le faʻataʻitaʻiga. O le taimi lava e maua ai le faʻamaoniga o le galactosemia, ona fautuaina lea o fautuaga faʻafesili mo isi tagata o le aiga.

Tele setete siaki uma pepe faatoa fananau mai mo galactosemia. Afai o le suʻega ole pepe na faʻaalia e mafai ona maua le galactosemia, e tatau loa ona taofi le tuʻuina vave o a latou oloa susu i pepe ma fesili i le latou tautua e uiga ile faia o suʻega ile toto e mafai ona faʻamaonia e faʻamaonia ai le galactosemia.

Galactose-1-phosphate uridyl transferase le lava; Galactokinase le lava; Galactose-6-phosphate epimerase le atoatoa; GALT; GALK; GALE; Epimerase le lava galactosemia; Le lava GALE; Galactosemia ituaiga III; UDP-galactose-4; Duarte fesuiaiga

• Galactosemia

Berry GT. Galactosemia masani ma galactosemia eseʻese falemaʻi. 2000 Feb 4 [Faʻafou 2017 Mati 9]. I: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Initaneti]. Seattle (WA): Iunivesite o Uosigitone, Seattle; 1993-2019. PMID: 20301691 www.ncbi.nlm.nih.gov/pubmed/20301691.

Bonnardeaux A, Bichet DG. Tofiina faaletonu o le tubule Fatugao. I: Skorecki K, Chertow GM, Marsden PA, Taal MW, Yu ASL, eds. Brenner ma Rector's Le Fatugaʻo. 10 ed. Filatelefia, PA: Elsevier; 2016: mata 45.

Broomfield A, Brain C, Grunewald S. Galactosaemia: faʻamaoniga, pulega ma taimi umi faʻaiuga. Paediatrics ma le Soifua Maloloina Tamaiti. 2015: 25 (3); 113-118. www.paediatricsandchildhealthjournal.co.uk/article/S1751-7222(14)00279-0/pdf.

Gibson KM, Penina PL. O mea sese o loʻo tupu mai i totonu ole metabolism ma le neula. I le: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL. Bradley's Neurology i Fomaʻi Faʻataʻitaʻi. 7th ed. Filatelefia, PA: Elsevier; 2016: mataʻi 91.

Kishnani PS, Chen Y-T. Faʻaletonu i le metabolism o gaʻo. I le: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Tusitusiga o Pediatrics. 21 ed. Filatelefia, PA: Elsevier; 2020: chap 105.

Maitra A. Faʻamaʻi o pepe ma tamaititi. I: Kumar V, Abbas AK, Aster JC, eds. Robbins ma Cotran Pathologic Faʻavae o Faamaʻi. 9th ed. Filatelefaia, PA: Elsevier Saunders; 2015: mata 10.