Phenylketonuria: from gene to symptom <br><b>[Abstract in English]</b>

Authors

  • Eurico Camargo Neto

Keywords:

PHENYLKETONURIA, PHENYLALANINE HYDROXYLASE, AMINO ACID METABOLISM, INBORN ERRORS, GENOTYPE, FENOTYPE, NEONATAL SCREENING, MUTATION, INTELLECTUAL DISABILITY, PROGNOSIS

Abstract

Phenylketonuria is one among the more than 300 inherited diseases caused by cell disorders, and is clinically the most prevalent among the inborn errors of amino acid metabolism. If not treated early, it can cause irreversible mental retardation, which is why early diagnosis, shortly after birth, is essential for successful treatment. There is a correlation between enzymatic activity and parameters of diagnostic classification of hyperphenylalaninaemias by analysis of DNA complementary to the phenylalanine hdroxilase encoding gene. In this issue, Scientia Medica presents an article establishing the genotype-phenotype correlation in a group of patients in Alagoas state, Brazil, from the analysis of seven pre-selected mutations. The study contributes significantly to the mapping of distribution and frequency of phenylalanine hydroxylase mutations in the Brazilian population.

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Author Biography

Eurico Camargo Neto

Dleonor Gastal Lago obteve graduação em Medicina (1972) e realizou residência médica em Pediatria (1974) pela Universidade Federal do Rio Grande do Sul. Concluiu mestrado (2000) e doutorado (2006) em Pediatria pela Pontifícia Universidade Católica do Rio Grande do Sul (PUC-RS). Tem especialização e experiência em Pediatria, com ênfase em Neonatologia. Atualmente é professora adjunta da Faculdade de Medicina da PUC-RS, atua no Alojamento Conjunto do Hospital São Lucas da PUC-RS e coordena o Ambulatório de Infecções Congênitas na mesma instituição. Participa do Brasil-Europe Multicentre Study on Congenital Toxoplasmosis. É editora do periódico científico "Scientia Medica" e revisora "ad hoc" dos periódicos "American Journal of Obstetrics and Gynecology" e "The Pediatric Infectious Diseases Journal". Em seu currículo Lattes os termos mais freqüentes na contextualização da produção científica são: Infecções congênitas, Toxoplasmose congênita, Congenital toxoplasmosis, Sífilis congênita, Congenital syphilis e Recém-nascido.

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Published

2012-07-27

How to Cite

Neto, E. C. (2012). Phenylketonuria: from gene to symptom <br><b>[Abstract in English]</b>. Scientia Medica, 22(2), 62–63. Retrieved from https://revistaseletronicas.pucrs.br/ojs/index.php/scientiamedica/article/view/11785

Issue

Vol. 22 No. 2 (2012)

Section

Editorial

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