Phenylketonuria: from gene to symptom
[Abstract in English]

Eurico Camargo Neto

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.

Keywords


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



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