I-Phenylketonuria - iyini nokuthi ungaphila nayo

Lesi sifo sihlotshaniswa nokuphulwa kwe-amino acid metabolism. Ikakhulu, i-phenylalanine. Ngenxa yokukhathazeka kokuguqulwa kwalesi-amino acid kwenye (i-tyrosine), ngenxa yokuntuleka kwe-enzyme oyifunayo, yona nemikhiqizo yayo enobuthi (phenylketones) iqoqa emzimbeni. Zinomthelela omubi, ikakhulukazi ohlelweni lwezinzwa. Kuhunyushwe kusuka eLatin - "ukutholakala kwama phenylketones emcimbini" - yilokho igama elithi "phenylketonuria" lisho. Iyini le disorder yokuxilonga, manje isicacile, futhi imbangela yokuthuthukiswa kwenkinga ikhona ekulahlekeni kwefa. Idluliswa yi-autosomal uhlobo oluphindaphindiwe.

Ukubonakaliswa kwe-pathology kubonakala kanjani?

Uma umuntu enesici esakhiweni esithinta ukuhlanganiswa kwe-enzyme edingekayo, i-phenylketonuria ivela. Lokho kusho lokhu, sikucabangile. Isikhathi sithola nini? Lesi sifo asibonakali ngaphandle ngemuva kokuzalwa, izingane zibukeka zijwayelekile, zizalwa ngesikhathi futhi zivame ukuthuthukiswa. Nokho, kamuva (ezinyangeni ezingu-2-6) kunezimpawu:

• Ukubuyela emuva kokuthuthukiswa ngokomzimba nangokwengqondo;
• Ukujuluka okukhulu ngokuba khona kohlobo oluthile lwephunga elivela emntwaneni;
• Ukuthukuthela, ukudabuka;
• Ukugungqika nokuzithemba;
• Ukudumala
• Kungaba ukuhlanza.

Futhi, ukubonakala kwezilonda zesikhumba (dermatitis, eczema) kubonisa i-phenylketonuria. Lokho lokhu nokuthi kubonakala kanjani esigulini kucacile, kodwa lezi zimpawu aziqondile - izifo eziningi zingaba nezimpawu ezifanayo.

Indlela yokuthola lesi sifo

Uma udokotela esola lesi sifo ngesisekelo sezibonakaliso zemitholampilo, uzobe ekhetha ukulinganisa inani le-phenylalanine egazini.

Futhi, isikhungo sezokwelapha sizokhipha umchamo ukuze kuhlaziywe, i-phenylketonuria ingatholakala njalo kusukela ezinsukwini ezingu-10-12 zokuphila kwengane. Manje ezibhedlela zokubeletha ezinsukwini ezingu-3-4 kusukela ekuzalweni kwengane zichitha ukuhlolwa kokuhlola ukuhlonza izinkinga ezihlukahlukene zemithi. Ukuhlolwa kwalesi sifo kubandakanya inombolo yabo. Isifo se-phenylketonuria sitholwa kaningi, ingane eyodwa ye-8000 izalwa nale nkinga. Izindlela zofuzo zokuxilongwa kwezifo zitholakala futhi: ukutholakala kwezinguquko ezakhiweni ezihambisanayo.

Indlela yokwelapha isiguli

Njengoba siqonda, isifo esinjenge phenylketonuria singokwezifo ze- genetic . Kusho ukuthini lokhu? Kunezindlela ezimbili zokwelapha abantu abanezinkinga ezinjalo ze-enzymes: ukuletha lesi sithombeni emzimbeni Ngenxa yokuthi ungabandakanyi emikhiqizweni yokudla edinga i-enzyme enikeziwe yokugaya, ukufana, ukuqubuzana okuphakathi. Endabeni yalesi sifo, ukhetho lokugcina lusetshenziswa. Iziguli zinciphisa kahle ukudla kwe-phenylalanine ngokudla. Yenza lokhu ngokushesha ngangokunokwenzeka ukuze uvimbele ukuphuza ngokweqile kobuchopho. Ukuze uthole ukudla usebenzisa ama-proteine akhethiwe akhethekile ngaphandle kwe-phenylalanine, ukwakha ukungabi namaprotheni.

Izindlela zokwelapha ngendlela ehlukile nazo zithuthukiswa - ngokusungula indawo yesitshalo se-enzyme. Indlela yokwelashwa yesimanje yesimanje ibuye ihlolwe: ukwethulwa kwesakhi esilawula ukukhiqizwa kwe-enzyme elahlekile.