IPhenylketonuria (PKU)

Umxholo

• Iimpawu phenylketonuria
• Oonobangela phenylketonuria
• Kufunyaniswa njani
• Izinketho zonyango
• Ukutya
• Amayeza
• Ukukhulelwa kunye phenylketonuria
• Umbono wexesha elide kubantu abane-phenylketonuria
• Ngaba i-phenylketonuria inokuthintelwa?

Yintoni i-phenylketonuria?

I-Phenylketonuria (PKU) yimeko enqabileyo yemfuza ebangela i-amino acid ebizwa ngokuba yi-phenylalanine ukwakha emzimbeni. Ii-amino acid zizitena zokwakha zeproteni. I-Phenylalanine ifumaneka kuzo zonke iiproteni kunye nezinye izinto ezinencasa zokufakelwa.

I-Phenylalanine hydroxylase yi-enzyme eyenziwa ngumzimba wakho ukuguqula i-phenylalanine ibe yi-tyrosine, efuna umzimba wakho ukwenza ii-neurotransmitters ezifana ne-epinephrine, norepinephrine, kunye ne-dopamine. I-PKU ibangelwa sisiphene kwimfuza enceda ukudala i-phenylalanine hydroxylase. Xa le enzyme ilahlekile, umzimba wakho awunako ukophula i-phenylalanine. Oku kubangela ukwakhiwa kwephenylalanine emzimbeni wakho.

Iintsana eUnited States zivavanyelwa iPKU kungekudala emva kokuzalwa. Le meko ayiqhelekanga kweli lizwe, ichaphazela kuphela i-1 kwi-10,000 ukuya kwi-15,000 yeentsana ngonyaka. Iimpawu ezinzima kunye neempawu ze-PKU zinqabile e-United States, njengoko ukuhlolwa kwangoko kuvumela unyango ukuba luqale kwakamsinya emva kokuzalwa. Ukuchongwa kwangoko kunye nonyango kunokunceda ukukhulula iimpawu ze-PKU kunye nokuthintela ukonakala kwengqondo.

Iimpawu phenylketonuria

Iimpawu ze-PKU zinokuhluka ukusuka kubumnene ukuya kubunzima. Olona hlobo lubi kwesi sifo lwaziwa njenge-PKU yakudala. Usana olune-PKU yakudala lunokubonakala njengesiqhelo kwiinyanga zokuqala zobomi babo. Ukuba umntwana akanyangwa iPKU ngeli xesha, baya kuqala ukukhulisa ezi mpawu zilandelayo:

• ukuxhuzula
• ukungcangcazela, okanye ukungcangcazela nokushukuma
• ukukhula okungakhawuleziyo
• Uxinzelelo
• iimeko zolusu ezifana nerhashalala
• Ivumba lomphefumlo wabo, ulusu, okanye umchamo

Ukuba i-PKU ayifumaneki ekuzalweni kwaye unyango aluqalwa ngokukhawuleza, ukuphazamiseka kunokubangela:

• umonakalo ongenakulungiswa kwengqondo kunye nokukhubazeka kwengqondo kwiinyanga ezimbalwa zokuqala zobomi
• iingxaki zokuziphatha kunye nokuhluthwa kubantwana abadala

Ifom encinci yePKU ibizwa ngokuba yi-PKU okanye i-non-PKU hyperphenylalaninemia. Oku kwenzeka xa umntwana ene-phenylalanine eninzi kakhulu emzimbeni wabo. Iintsana ezinolu hlobo lwesifo zinokuba neempawu eziphakathi kuphela, kodwa kuya kufuneka zilandele ukutya okukhethekileyo ukunqanda ukukhubazeka kwengqondo.

Nje ukuba ukutya okuthile kunye nolunye unyango oluyimfuneko luqaliswe, iimpawu ziqala ukuncipha. Abantu abane-PKU abalawula ngokufanelekileyo ukutya kwabo bahlala bengabonisi zimpawu.

Oonobangela phenylketonuria

I-PKU yimeko ezuzwe njengelifa ebangelwe sisiphene kuhlobo lwePAH. Uhlobo lwe-PAH lunceda ukwenza i-phenylalanine hydroxylase, i-enzyme ejongene nokwaphula i-phenylalanine. Ukwakhiwa okuyingozi kwe-phenylalanine kunokwenzeka xa umntu esitya ukutya okuneproteni ephezulu, njengamaqanda nenyama.

Bobabini abazali kufuneka badlulise ingxelo engalunganga ye-PAH yomntwana ukuze bazuze ilifa lesifo. Ukuba umzali omnye udlula kwi-gene eguqulweyo, umntwana akasayi kuba nazimpawu, kodwa baya kuba ngumthwali wohlobo.

Kufunyaniswa njani

Ukusukela nge1960s, izibhedlele eUnited States bezikhe zahlola iintsana ezisanda kuzalwa ngePKU ngokuthatha isampulu yegazi. Ugqirha usebenzisa inaliti okanye i-lancet ukuthatha amathontsi egazi kwisithende somntwana wakho ukuvavanya i-PKU kunye nezinye iingxaki zemfuza.

Uvavanyo lokuhlola luyenziwa xa umntwana enosuku olunye ukuya kwiintsuku ezimbini ubudala kwaye usesibhedlele. Ukuba awuhambisi umntwana wakho esibhedlele, kuya kufuneka ucwangcise uvavanyo lokuvavanywa nogqirha wakho.

Uvavanyo olongezelelweyo lunokwenziwa ukuqinisekisa iziphumo zokuqala. Olu vavanyo lukhangela ubukho benguquko ye-PAH ebangela iPKU. Olu vavanyo lwenziwa rhoqo kwiiveki ezintandathu emva kokuzalwa.

Ukuba umntwana okanye umntu omdala ubonakalisa iimpawu ze-PKU, ezinje ngokulibaziseka kophuhliso, ugqirha uya kuyalela uvavanyo lwegazi ukuqinisekisa isifo. Olu vavanyo lubandakanya ukuthatha isampulu yegazi kunye nokuyihlalutya ubukho be-enzyme efunekayo ukwaphula i-phenylalanine.

Izinketho zonyango

Abantu abane-PKU banokuzikhulula iimpawu zabo kwaye bathintele iingxaki ngokulandela ukutya okukhethekileyo nangokuthatha amayeza.

Ukutya

Eyona ndlela iphambili yokunyanga i-PKU kukutya ukutya okhethekileyo okuthintela ukutya okuqukethe i-phenylalanine. Iintsana ezine-PKU zinokutyiswa ubisi lwebele. Ngokwesiqhelo bafuna ukusebenzisa ifomula ekhethekileyo eyaziwa ngokuba yiLofenalac. Xa umntwana wakho emdala ngokwaneleyo ukuba angatya ukutya okuqinileyo, kufuneka uphephe ukumvumela ukuba atye ukutya okuneproteni eninzi. Oku kutya kubandakanya:

• amaqanda
• itshizi
• amandongomane
• ubisi
• iimbotyi
• inkukhu
• inyama yenkomo
• inyama yehagu
• intlanzi

Ukuqinisekisa ukuba basafumana isixa esaneleyo seeproteni, abantwana abane-PKU kufuneka basebenzise ifomula yePKU. Inayo yonke iamino acid efunwa ngumzimba, ngaphandle kwephenylalanine. Kukho iiproteyini ezisezantsi, ukutya okufanelekileyo kwe-PKU kunokufumaneka kwiivenkile ezizodwa zezempilo.

Abantu abane-PKU kuya kufuneka balandele le miqobo yokutya kwaye basebenzise ifomula ye-PKU kubo bonke ubomi babo ukulawula iimpawu zabo.

Kubalulekile ukuba uqaphele ukuba izicwangciso zokutya ze-PKU ziyahluka kumntu kumntu. Abantu abane-PKU kufuneka basebenze ngokusondeleyo nogqirha okanye ugqirha otya ukutya ukugcina ulungelelwaniso olufanelekileyo lwezakhamzimba ngelixa kuthintela ukutya kwabo i-phenylalanine. Baye bajonge amanqanaba abo e-phenylalanine ngokugcina iirekhodi zexabiso le-phenylalanine kukutya abakutyayo imini yonke.

Ezinye izindlu zowiso-mthetho ziye zenza umthetho oyilwayo obonelela nge-inshurensi yokutya kunye neefomula eziyimfuneko ukunyanga i-PKU. Jonga indlu yowiso-mthetho yakho kunye nenkampani yeinshurensi yezonyango ukufumanisa ukuba ngaba le ngxelo iyafumaneka kuwe. Ukuba awunayo i-inshurensi yezonyango, ungakhangela kumasebe ezempilo asekuhlaleni ukuze ubone ukuba zeziphi iindlela ezikhoyo ezinokukunceda ukuba ubenako ukuthenga ifomula yePKU.

Amayeza

I-United States yoLawulo lwezoKutya kunye noLawulo lweziyobisi (i-FDA) kutshanje yamkele i-sapropterin (Kuvan) kunyango lwe-PKU. I-Sapropterin inceda ukuthoba amanqanaba e-phenylalanine. Eli yeza kufuneka lisetyenziswe ngokudibeneyo nesicwangciso sokutya esikhethekileyo sePKU. Nangona kunjalo, ayisebenzi kuwo wonke umntu one-PKU. Kusebenza kakhulu kubantwana abanamatyala amancinci ePKU.

Ukukhulelwa kunye phenylketonuria

Umfazi one-PKU unokuba semngciphekweni weengxaki, kubandakanya ukuphuphuma kwesisu, ukuba abayilandeli iplani yokutya ye-PKU ngexesha lokuzala kwabo. Kukho nethuba lokuba umntwana ongekazalwa uya kutyhilwa kumanqanaba aphezulu e-phenylalanine. Oku kunokukhokelela kwiingxaki ezahlukeneyo kusana, kubandakanya:

• ukukhubazeka kwengqondo
• iziphene zentliziyo
• ukukhula okucothayo
• ubunzima bokuzalwa obuphantsi
• intloko encinci ngokungaqhelekanga

Le miqondiso ayibonakali kwangoko kusana olusandul 'ukuzalwa, kodwa ugqirha uya kwenza iimvavanyo ukukhangela iimpawu zalo naluphi na uxinzelelo lwezonyango olunokuba nalo umntwana wakho.

Umbono wexesha elide kubantu abane-phenylketonuria

Umbono wexesha elide kubantu abane-PKU ulunge kakhulu ukuba balandela isicwangciso sokutya se-PKU ngokusondeleyo kwaye kungekudala emva kokuzalwa. Xa ukuxilongwa kunye nokunyanga kulibazisekile, umonakalo wengqondo unokwenzeka. Oku kunokukhokelela ekukhubazekeni kwengqondo ngonyaka wokuqala wobomi bomntwana. I-PKU enganyangekiyo inokubangela ukuba:

• ukulibaziseka kophuhliso
• iingxaki zokuziphatha nezeemvakalelo
• iingxaki zemithambo-luvo, ezinjengokungcangcazela kunye nokuxhuzula

Ngaba i-phenylketonuria inokuthintelwa?

I-PKU yimeko yemfuza, ngenxa yoko ayinakuthintelwa. Nangona kunjalo, uvavanyo lwe-enzyme lunokwenziwa kubantu abaceba ukuba nabantwana. Uvavanyo lwe-enzyme luvavanyo lwegazi olunokumisela ukuba umntu uphethe i-gene engalunganga ebangela i-PKU. Uvavanyo luyakwenziwa ngexesha lokukhulelwa ukukrola iintsana ezingekazalwa kwi-PKU.

Ukuba unayo iPKU, unokuthintela iimpawu ngokulandela isicwangciso sakho sokutya sePKU ebomini bakho bonke.