Galactosemia

Galactosemia mamiriro umo muviri usingakwanise kushandisa (metabolism) iri nyore shuga galactose.

Galactosemia chirwere chakagara nhaka. Izvi zvinoreva kuti inopfuudzwa kuburikidza nemhuri. Kana ivo vaviri vabereki vakatakura kopi isingashande yegene iyo inogona kukonzera galactosemia, mumwe nemumwe wevana vavo ane 25% (1 mu4) mukana wekubatwa nawo.

Kune matatu mafomu echirwere.

• Galactose-1 phosphate uridyl transferase (GALT) kushomeka: Classic galactosemia, yakajairika uye yakaoma fomu
• Kushomeka kwegalactose kinase (GALK)
• Kushomeka kwegalactose-6-phosphate epimerase (GALE)

Vanhu vane galactosemia havakwanise kuputsa zvizere shuga galactose iri nyore. Galactose inogadzira hafu yelactose, shuga inowanikwa mumukaka.

Kana mucheche ane galactosemia apihwa mukaka, zvinhu zvakagadzirwa kubva kugalactose zvinowanda muhurongwa hwemucheche. Izvi zvinhu zvinokuvadza chiropa, huropi, itsvo, uye maziso.

Vanhu vane galactosemia havagone kutsungirira chero mhando yemukaka (munhu kana mhuka). Vanofanira kungwarira nezvekudya zvimwe zvekudya zvine galactose.

Vacheche vane galactosemia vanogona kuratidza zviratidzo mumazuva ekutanga ehupenyu kana vakadya fomula kana mukaka wemukaka une lactose. Zviratidzo zvinogona kunge zvichikonzerwa nehutachiona hweropa hwakakomba nehutachiona E coli.

Zviratidzo zvegalactosemia ndezvi:

• Kugwinha
• Kushatirwa
• Lethargy
• Kudya zvisina tsarukano - mwana anoramba kudya mukaka une mukaka
• Kurera huremu kuwedzera
• Yero ganda uye vachena vemeso (jaundice)
• Kusvipa

Miedzo yekutarisa galactosemia inosanganisira:

• Ropa tsika yehutachiona hutachiona (E coli sepsis)
• Enzyme chiitiko mumasero matsvuku eropa
• Maketoni mune weti
• Kuongororwa kwepamuviri nekuyera zvakananga iyo enzyme galactose-1-phosphate uridyl transferase
• "Kuderedza zvinhu" mumuti weti, uye shuga yakajairika kana yakaderera muropa apo mucheche ari kupihwa mukaka wemukaka kana fomura ine lactose

Kuzvarwa patsva kuongororwa bvunzo mumatunhu mazhinji tarisa galactosemia.

Mhedzisiro yemiedzo inogona kuratidza:

• Amino acids mune weti kana plasma yeropa
• Yakawedzera chiropa
• Fluid mudumbu
• Shuga shoma yeropa

Vanhu vane chirwere ichi vanofanirwa kudzivirira mukaka wese, zvigadzirwa zvine mukaka (kusanganisira mukaka wakaoma), uye zvimwe zvekudya zvine galactose, kwehupenyu hwese. Verenga zvigadzirwa zvinyorwa kuti uone kuti iwe kana mwana wako ane mamiriro acho haasi kudya zvokudya zvine galactose.

Vacheche vanogona kupihwa chikafu:

• Soy fomula
• Imwe nzira isina-lactose
• Meat-based fomula kana Nutramigen (puroteni hydrolyzate fomula)

Calcium zvinowedzera zvinokurudzirwa.

Galactosemia Foundation - www.galactosemia.org

Vanhu vanoonekwa kuti vakurumidza uye vanonyatso kudzivirira zvigadzirwa zvemukaka vanogona kurarama hupenyu hwakajairika. Zvisinei, kuora mwoyo kwepfungwa kwakadzika kunogona kukura, kunyange kune vanhu vanodzivisa galactose.

Aya matambudziko anogona kukura:

• Kurwara
• Cirrhosis yechiropa
• Kunonoka kukura kwekutaura
• Nguva dzekuenda kumwedzi zvisina kujairika, kuderedzwa kwemabasa emazai kunotungamira kukundikana kweovarian uye kushaya mbereko
• Kuremara kwepfungwa
• Utachiona hwakanyanya nehutachiona (E coli sepsis)
• Kudengenyeka (kudedera) uye kusadzora mota mashandiro
• Rufu (kana paine galactose mune chikafu)

Fonera wako mupi wezvehutano kana:

• Mwana wako ane galactosemia zviratidzo
• Iwe une nhoroondo yemhuri ye galactosemia uye urikufunga kuve nevana

Zvinobatsira kuziva nhoroondo yemhuri yako. Kana iwe uine nhoroondo yemhuri ye galactosemia uye uchida kuva nevana, kurairwa kwemajini kuchakubatsira iwe kuita sarudzo nezve nhumbu uye kuyedzwa kwepamuviri. Kamwe kuongororwa kwegalactosemia kwaitwa, kurairwa kwemajini kunokurudzirwa kune dzimwe nhengo dzemhuri.

Vazhinji vanoti vanoongorora vese vacheche vegalactosemia. Kana iyo bvunzo ichangozvarwa inoratidza inogona kuita galactosemia, ivo vanofanirwa kumira kupa avo vacheche mukaka zvigadzirwa ipapo uye vobvunza mupi wavo nezve kuongororwa kweropa kunogona kuitwa kusimbisa kuongororwa kwe galactosemia.

Galactose-1-phosphate uridyl transferase kushomeka; Galactokinase kushomeka; Galactose-6-phosphate epimerase kushomeka; GALT; GALK; GALE; Kushaya Epimerase galactosemia; Kushaya GALE; Galactosemia mhando III; UDP-galactose-4; Duarte musiyano

• Galactosemia

Berry GT. Classic galactosemia uye kiriniki akasiyana galactosemia. 2000 Feb 4 [Yakagadziridzwa 2017 Mar 9]. Mune: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Internet]. Seattle (WA): Yunivhesiti yeWashington, Seattle; 1993-2019. PMID: 20301691 www.ncbi.nlm.nih.gov/pubmed/20301691.

Bonnardeaux A, Bichet DG. Nhaka kusagadzikana kweiyo renal tubule. Mune: Skorecki K, Chertow GM, Marsden PA, Taal MW, Yu ASL, eds. Brenner uye Rector Iyo Itsvo. 10th ed. Philadelphia, PA: Elsevier; 2016: chits.

Broomfield A, Brain C, Grunewald S. Galactosaemia: kuongororwa, manejimendi uye mhedzisiro-yenguva refu. Paediatrics uye Hutano hweVana. 2015: 25 (3); 113-118. www.paediatricsandchildhealthjournal.co.uk/article/S1751-7222(14)00279-0/pdf.

Gibson KM, Pearl PL. Inborn zvikanganiso zvemetabolism uye tsinga system. Mune: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL. Bradley's Neurology muClinical Dzidzira. 7th ed. Philadelphia, PA: Elsevier; 2016: chits 91.

Kishnani PS, Chen YT. Kukanganisa mune metabolism yemakabohydrate. Mune: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Chinyorwa chePediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020: chits. 105.

Maitra A. Zvirwere zvehucheche uye hudiki. Mune: Kumar V, Abbas AK, Aster JC, eds. Robbins uye Cotran Pathologic Hwaro hweHosha. 9th ed. Philadelphia, PA: Elsevier Saunders; 2015: chits.