¿Qué debe saber el pediatra de las hiperfenilalaninemias? / What should the paediatrician know about hyperphenylalaninaemia?
Rev. chil. pediatr
;
86(3): 214-218, jun. 2015. ilus, tab
Article
in Spanish
| LILACS
| ID: lil-760117
RESUMEN
Las hiperfenilalaninemias se definen por un nivel sanguíneo de fenilalanina sobre 2 mg/dl. La principal causa es una mutación en el gen que codifica la fenilalanina hidroxilasa que cataliza la reacción que transforma la fenilalanina en tirosina. Las hiperfenilalaninemias se clasifican en benignas o leves, y las fenilcetonurias en leves, moderadas y clásicas. Debido a que su detección más allá del periodo neonatal causa retardo mental severo, desde 1992 en Chile su detección, junto con la del hipotirodismo congénito, es parte del Programa Nacional de Pesquisa Neonatal. Este artículo pretende responder las preguntas más comunes que se puede hacer el pediatra cuando enfrenta a un paciente con hiperfenilalaninemias.
ABSTRACT
Hyperphenylalaninaemias are defined by a blood phenylalanine over 2 mg/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.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Phenylalanine
/
Phenylketonurias
/
Neonatal Screening
Type of study:
Diagnostic study
Limits:
Humans
/
Infant, Newborn
Country/Region as subject:
South America
/
Chile
Language:
Spanish
Journal:
Rev. chil. pediatr
Journal subject:
Pediatrics
Year:
2015
Type:
Article
Affiliation country:
Chile
Institution/Affiliation country:
Universidad de Chile/CL
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