Nihal DEMİREL, İstemi Han ÇELİK, Sara EROL, Ahmet Yağmur BAŞ, Dilek IŞIK ULUBAŞ

Maternal Fenilketonüri Sendromuna Bağlı Çoklu Konjenital Anomali Gelişen İki Olgu

Fenilketonüri otozomal resesif geçişli kalıtsal bir metabolik hastalıktır. Fenilalaninden kısıtlı diyet, hastalığın metabolik kontrolü için esastır. Gebelik sırasında annenin yüksek plazma fenilalanin düzeyleri teratojeniktir. Makalede maternal fenilketonüri sendromlu iki yenidoğan sunulmaktadır.

Anahtar Kelimeler:

Diyet, Fenilketonüri, Teratojen

Phenylketonuria Two Cases with Multiple Congenital Anomalies Caused by Maternal

Pheniylketonuria is an inherited autosomal recessive metabolic disorder. A phenylalanine-restricted diet is the essential for metabolic control of the disease. Elevated maternal plasma phenylalanine concentrations during pregnancy are teratogenic. Two newborns with maternal phenylketonuria are reported in this article

Keywords:

Diet, Phenylketonuria, Teratogen,

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