Phenylketonuria (PKU): Screening and Management
INTRODUCTION Phenylketonuria or PKU is a rare, inherited metabolic disorder that, if untreated, causes mental retardation. Approximately one of every 10,000 infants in the United States is born with PKU, which usually results from a deficiency of a liver enzyme known as phenylalanine hydroxylase...
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| Formato: | Artículo |
| Lenguaje: | Inglés |
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Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas
2014
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| Acceso en línea: | http://repositorio.ub.edu.ar/handle/123456789/2884 |
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I36-R142-123456789-2884 |
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Universidad de Belgrano |
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I-36 |
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Repositorio Institucional - Universidad de Belgrano (UB) |
| language |
Inglés |
| topic |
Phenylketonuria PKU Screening and Management Detección y Gestión fenilcetonuria |
| spellingShingle |
Phenylketonuria PKU Screening and Management Detección y Gestión fenilcetonuria Patrias, Karen de la Cruz, Felix F. Phenylketonuria (PKU): Screening and Management |
| topic_facet |
Phenylketonuria PKU Screening and Management Detección y Gestión fenilcetonuria |
| description |
INTRODUCTION
Phenylketonuria or PKU is a rare, inherited metabolic disorder that, if untreated, causes mental retardation. Approximately
one of every 10,000 infants in the United States is born with PKU, which usually results from a deficiency of a liver enzyme
known as phenylalanine hydroxylase (PAH). This enzyme deficiency leads to elevated levels of the amino acid phenylalanine
in the bloodstream.
All infants in this country undergo blood testing for PKU. The current treatment for this disorder involves dietary
modification. When a very strict diet is begun early and maintained, children with PKU can expect normal development and
a normal lifespan. The diet generally excludes all high protein foods, such as meat, milk, eggs, and nuts, since all protein
contains phenylalanine. Dietary noncompliance can result in a decline in mental and behavioral performance. Women with
PKU must also maintain a strictly controlled diet before and during pregnancy to prevent fetal damage. Scientists are
actively exploring nondietary treatments for PKU.
This bibliography was prepared in support of the National Institutes of Health (NIH) Consensus Development Conference
titled Phenylketonuria (PKU): Screening and Management held in Bethesda, MD on October 16–18, 2000. It includes
citations to journal articles, books and book chapters, conference proceedings and conference papers, and dissertations
in all languages published primarily from January 1980 through July 2000. Works of historical significance and other selected
references from earlier years have also been included. Citations have been arranged by subject and then alphabetically by
author within each subject. A citation may appear under more than one subject. For example, a citation discussing the
economic aspects of screening for PKU would be found under both “Economics and Socioeconomics” and “Screening and
Diagnosis.”
The compilers wish to thank Ms. Twann Dailey of the National Library of Medicine for her assistance in the production of
this bibliography |
| format |
Article |
| author |
Patrias, Karen de la Cruz, Felix F. |
| author_facet |
Patrias, Karen de la Cruz, Felix F. |
| author_sort |
Patrias, Karen |
| title |
Phenylketonuria (PKU): Screening and Management |
| title_short |
Phenylketonuria (PKU): Screening and Management |
| title_full |
Phenylketonuria (PKU): Screening and Management |
| title_fullStr |
Phenylketonuria (PKU): Screening and Management |
| title_full_unstemmed |
Phenylketonuria (PKU): Screening and Management |
| title_sort |
phenylketonuria (pku): screening and management |
| publisher |
Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas |
| publishDate |
2014 |
| url |
http://repositorio.ub.edu.ar/handle/123456789/2884 |
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AT patriaskaren phenylketonuriapkuscreeningandmanagement AT delacruzfelixf phenylketonuriapkuscreeningandmanagement |
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Repositorios |
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