{"id":3362,"date":"2025-10-06T05:52:41","date_gmt":"2025-10-06T05:52:41","guid":{"rendered":"https:\/\/genoks.com.tr\/docs\/phenylketonuria-pku-en\/"},"modified":"2026-05-02T05:14:25","modified_gmt":"2026-05-02T05:14:25","password":"","slug":"phenylketonuria-pku-en","status":"publish","type":"docs","link":"https:\/\/genoks.com.tr\/en\/docs\/phenylketonuria-pku-en\/","title":{"rendered":"What is Phenylketonuria (PKU)?"},"content":{"rendered":"\n

Phenylketonuria (PKU).<\/strong> Autosomal recessive disorder caused by mutations in the PAH gene encoding phenylalanine hydroxylase, leading to phenylalanine accumulation. Untreated, it causes severe intellectual disability, microcephaly, seizures, and behavioral problems. Newborn screening (Guthrie test) detects PKU within days of birth. Treatment: lifelong phenylalanine-restricted diet \u00b1 sapropterin (BH4 cofactor) \u00b1 pegvaliase (enzyme replacement). Maternal PKU requires strict dietary control before conception and during pregnancy.<\/p>\n\n\n\n\"Fenilketon\u00fcri\n

Fenilketon\u00fcri (PKU) hastalar\u0131nda, karaci\u011fer proteinli g\u0131dalardaki fenilalanini metabolize edemeyen bir enzim eksikli\u011fi bulunur. Bu durum fenilalanin ve di\u011fer metabolitlerin v\u00fccutta birikmesine neden olur. Bu birikim, geli\u015fmekte olan beyni olumsuz etkileyebilir ve zaman i\u00e7inde zeka gerili\u011fi ve sinir sistemi bozukluklar\u0131na yol a\u00e7abilir. Fenilketon\u00fcri(PKU) hastal\u0131\u011f\u0131 genetik bir hastal\u0131kt\u0131r ve hem anne hem de baba taraf\u0131ndan gelen hasta genlerinin birle\u015fmesiyle olu\u015fur.<\/p>\n

Fenilketon\u00fcri (PKU) Hastal\u0131\u011f\u0131 Belirtileri<\/h2>\n

Fenilketon\u00fcri (PKU) hastal\u0131\u011f\u0131, bebeklerin ilk aylar\u0131nda genellikle belirgin belirtiler g\u00f6stermez. Ancak tedavi edilmezse, 5-6 ay civar\u0131nda zeka gerili\u011fi belirgin hale gelir. Hastalar, oturma, y\u00fcr\u00fcme, konu\u015fma gibi becerileri kazanamazlar ve fiziksel geli\u015fimleri de geride kal\u0131r. Ayr\u0131ca, hastalar\u0131n y\u00fczde 60’\u0131nda a\u00e7\u0131k renkli sa\u00e7, g\u00f6z ve cilt g\u00f6r\u00fcl\u00fcr. \u0130drar ve ter gibi v\u00fccut s\u0131v\u0131lar\u0131n\u0131n kokusu karakteristik bir k\u00fcf kokusu gibidir. Baz\u0131 hastalarda n\u00f6betler ve sald\u0131rgan davran\u0131\u015flar da g\u00f6r\u00fclebilir.<\/p>\n

Genetik Testler: PKU Hastal\u0131\u011f\u0131 Te\u015fhisi<\/h2>\n

Fenilketon\u00fcri (PKU) hastal\u0131\u011f\u0131, genetik bir k\u00f6keni olan bir rahats\u0131zl\u0131kt\u0131r. PKU te\u015fhisi koymak i\u00e7in, ki\u015finin PKU’ya yol a\u00e7an genetik mutasyonlar\u0131 belirlemek amac\u0131yla \u00e7e\u015fitli genetik testler uygulanabilir. Bu testler, hastal\u0131\u011f\u0131n genetik temelini anlamam\u0131za ve do\u011fru te\u015fhis koymam\u0131za yard\u0131mc\u0131 olur.<\/p>\n

Erken Tedavi Beyni Korur<\/h2>\n

PKU hastal\u0131\u011f\u0131 te\u015fhisi konuldu\u011funda, \u00f6zel bir diyet program\u0131 ile tedaviye ba\u015flanabilir. Erken tedavi, beynin hastal\u0131ktan etkilenmesini \u00f6nler. Bu \u00f6zel diyet, ya\u015fam boyu devam etmelidir. Fenilalanin amino asidi, proteinli besinlerde bulunur ve v\u00fccut i\u00e7in gereklidir, ancak diyetle kontroll\u00fc bir \u015fekilde al\u0131nmal\u0131d\u0131r. PKU hastalar\u0131n\u0131n diyetlerinde y\u00fcksek fenilalanin i\u00e7eren g\u0131dalar\u0131 s\u0131n\u0131rlamalar\u0131 gerekebilir.<\/p>\n

PKU hastal\u0131\u011f\u0131, erken te\u015fhis ve uygun tedavi ile kontrol alt\u0131na al\u0131nabilir. Bu nedenle, bebeklerin do\u011fum sonras\u0131 d\u00f6neminde topuktan kan\u0131 testi yap\u0131lmas\u0131 \u00f6nemlidir. Sa\u011fl\u0131k Bakanl\u0131\u011f\u0131 taraf\u0131ndan y\u00fcr\u00fct\u00fclen tarama program\u0131, bu hastal\u0131\u011f\u0131n erken te\u015fhisini desteklemektedir. Unutmay\u0131n, erken te\u015fhis hayat kurtarabilir ve sa\u011fl\u0131kl\u0131 bir gelecek sa\u011flayabilir.<\/p>\n

T\u00fcm genetik testlerimiz “Hasta Onam Formu”<\/b> ve “KVKK Formu”<\/b>nun imzalanmas\u0131n\u0131n ard\u0131ndan \u00e7al\u0131\u015f\u0131lmaya ba\u015flan\u0131r.<\/p>\"Genoks\n

Genoks Genetik Hastal\u0131klar De\u011ferlendirme Merkezi T.C. Sa\u011fl\u0131k Bankanl\u0131\u011f\u0131nca denetlenen ve GHDM-SM\/06.15\/01 ruhsat numaras\u0131<\/b> ile hizmet veren sa\u011fl\u0131k kurulu\u015fudur. Onkogenoks taraf\u0131ndan payla\u015f\u0131lan bilgiler, hastal\u0131k de\u011ferlendirme ve\/veya tan\u0131-te\u015fhis ama\u00e7l\u0131 kullan\u0131lmamal\u0131d\u0131r.<\/i><\/b> T\u00fcm t\u0131bbi durumlar profesyonel t\u0131bbi de\u011ferlendirme, te\u015fhis ve tedavi gerektirir.<\/b> E\u011fer kanser veya ba\u015fka bir sa\u011fl\u0131k sorunuyla ilgili \u015f\u00fcpheleriniz varsa, derhal uzman hekiminize<\/b> ba\u015fvurmal\u0131s\u0131n\u0131z. Erken te\u015fhis ve tedavi, sa\u011fl\u0131k sorunlar\u0131n\u0131n daha etkili bir \u015fekilde y\u00f6netilmesine yard\u0131mc\u0131 olabilir. Kanser gibi ciddi hastal\u0131klar\u0131n erken a\u015famalarda te\u015fhis edilmesi, tedavi \u015fans\u0131n\u0131 art\u0131rabilir ve ya\u015fam kalitesini iyile\u015ftirebilir.<\/i> Unutmay\u0131n ki kendi kendinize te\u015fhis koymak veya \u00e7evrimi\u00e7i kaynaklara g\u00fcvenmek, sa\u011fl\u0131\u011f\u0131n\u0131za zarar verebilir.<\/b><\/p>\n

Genoks GDHM \u0130leti\u015fim Formu i\u00e7in t\u0131klay\u0131n\u0131z.<\/a><\/strong><\/p>\n

\u0130\u00e7erik Edit\u00f6r\u00fc:<\/b> Sercan Kantarc\u0131 | Telefon:<\/b> +90 505 180 77 48 E-posta:<\/b> sercan.kantarci@genoks.com.tr<\/p>\n

\n","protected":false},"excerpt":{"rendered":"

Phenylketonuria (PKU). Autosomal recessive disorder caused by mutations in the PAH gene encoding phenylalanine hydroxylase, leading to phenylalanine accumulation. Untreated, it causes severe intellectual disability, microcephaly, seizures, and behavioral problems. Newborn screening (Guthrie test) detects PKU within days of birth. [\u2026]<\/span><\/p>\n","protected":false},"author":1,"featured_media":668,"comment_status":"open","ping_status":"closed","template":"","meta":{"footnotes":""},"doc_category":[204],"doc_tag":[],"class_list":["post-3362","docs","type-docs","status-publish","has-post-thumbnail","hentry","doc_category-genoks-gdhm-genetic-tests"],"aioseo_notices":[],"year_month":"2026-05","word_count":622,"total_views":0,"reactions":{"happy":0,"normal":0,"sad":0},"author_info":{"name":"admin","author_nicename":"admin","author_url":"https:\/\/genoks.com.tr\/en\/author\/admin\/"},"doc_category_info":[{"term_name":"Genoks GDHM Genetic Tests","term_url":"https:\/\/genoks.com.tr\/en\/docs-category\/genoks-gdhm-genetic-tests\/"}],"doc_tag_info":[],"aioseo_head":"\n\t\t\n\t\n\t\n\t\n\t\n\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t