Title |
¿Qué debe saber el pediatra de las hiperfenilalaninemias?
|
---|---|
Published in |
Revista chilena de pediatría, July 2015
|
DOI | 10.1016/j.rchipe.2015.06.006 |
Pubmed ID | |
Authors |
Paulina Bravo, Erna Raimann, Juan Francisco Cabello, Carolina Arias, Pilar Peredo, Gabriela Castro, Valerie Hamilton, Karen Campo, Verónica Cornejo |
Abstract |
Hyperphenylalaninaemias are defined by a blood phenylalanine over 2mg/dl. The main cause is due to a mutation in the gene that codes the phenylalanine hydroxylase that catalyses the reaction that converts phenylalanine into tyrosine. The hyperphenylalaninaemias are classified into benign or mild hyperphenylalaninaemias, or mild, moderate or classic phenylketonurias. Due to its delayed detection outside the neonatal period it causes severe mental retardation. Its detection along with congenital hypothyroidism has been part of the National Neonatal Screening Program since 1992 in Chile. This article aims to answer the most common questions asked by the paediatrician when faced with a patient with hyperphenylalaninaemias. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Argentina | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 56 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Bachelor | 19 | 34% |
Other | 3 | 5% |
Student > Doctoral Student | 3 | 5% |
Professor | 2 | 4% |
Student > Postgraduate | 2 | 4% |
Other | 4 | 7% |
Unknown | 23 | 41% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 14 | 25% |
Biochemistry, Genetics and Molecular Biology | 4 | 7% |
Nursing and Health Professions | 3 | 5% |
Arts and Humanities | 2 | 4% |
Computer Science | 2 | 4% |
Other | 7 | 13% |
Unknown | 24 | 43% |