Estudio clínico, bioquímico, neurológico y molecular de 11 pacientes que presentan mutaciones nuevas en el gen PAH.

Translated title of the contribution: Clinical, biomedical , neurological and molecular study of 11 patients with new mutations in PAH gene

J. Mallolas, M. A. Vilaseca, J. Campistol, N. Lambruschini, F. J. Cambra, M. E. Fusté, M. Milà

Research output: Indexed journal article Articlepeer-review

6 Citations (Scopus)

Abstract

INTRODUCTION: PKU is an autosomal recessive disorder. There is a broad spectrum phenotype which depends mainly on residual enzymatic activity and also on other factors such as modifying genes and non-genetic factors. This fact makes us consider that a multidisciplinary study of these patients is necessary to improve knowledge of the condition. OBJECTIVE: To establish phenotype-genotype correlation and classify nine new mutations according to severity. PATIENTS AND METHODS: We evaluated the clinical data obtained from a multidisciplinary trial of 11 patients with PKU/HPA who presented with nine new mutations (P275S, P279fsdelC, V388delTG, N61/I62/T63fsdel5bp, P281S, P362T, H1OOR, I164V and Y168H) identified during a molecular study of the PAH gene done in Catalonia (Spain). RESULTS AND CONCLUSION: In our patients the genotype is correlated with the biochemical phenotype whereas the cognitive phenotype depends on determining factors such as early diagnosis and diet. Therefore, although PKU may be considered to be a complex characteristic, the mutations in the PAH gene are the main determining factor of the metabolic phenotype of PKU. A multidisciplinary study is the best way to understand and control these patients.

Translated title of the contributionClinical, biomedical , neurological and molecular study of 11 patients with new mutations in PAH gene
Original languageSpanish
Pages (from-to)907-910
Number of pages4
JournalRevista de Neurologia
Volume31
Issue number10
DOIs
Publication statusPublished - 2000
Externally publishedYes

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