Tetrahydrobiopterin and maternal PKU.

Koch, Richard; Moseley, Kathryn; Guttler, Flemming

Koch, Richard; Moseley, Kathryn; Guttler, Flemming.

Afiliación

Koch R; Department of Pediatrics, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA. rkoch8@earthlink.net

Mol Genet Metab ; 86 Suppl 1: S139-41, 2005 Dec.

Article en En | MEDLINE | ID: mdl-16338627

RESUMEN

A 29-year-old woman with PKU is presented, who was successfully treated with phenylalanine restriction as well as oral BH4 during this pregnancy, with a normal outcome. Her PAH mutation was R408W/F39L. Remarkably, the blood phenylalanine control was easily accomplished during this pregnancy. The lack of nausea and vomiting during the first trimester suggests that the occurrence of CHD in babies born to women with PKU may be reduced with BH4.

Asunto(s)

Biopterinas/análogos & derivados; Dieta con Restricción de Proteínas; Fenilcetonuria Materna/terapia; Adulto; Errores Innatos del Metabolismo de los Aminoácidos; Biopterinas/uso terapéutico; Terapia Combinada; Femenino; Humanos; Recién Nacido; Mutación; Tamizaje Neonatal; Fenilalanina/administración & dosificación; Fenilalanina/sangre; Fenilalanina Hidroxilasa/genética; Fenilcetonuria Materna/sangre; Fenilcetonuria Materna/genética; Fenilcetonurias; Embarazo

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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Biopterinas / Fenilcetonuria Materna / Dieta con Restricción de Proteínas Límite: Adult / Female / Humans / Newborn / Pregnancy Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2005 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos

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