Two novel genetic lesions and a common BH4-responsive mutation of the PAH gene in Italian patients with hyperphenylalaninemia

T Bardelli; M A Donati; S Gasperini; F Ciani; F Belli; N Blau; A Morrone; E Zammarchi

doi:10.1016/s1096-7192(02)00166-x

Two novel genetic lesions and a common BH4-responsive mutation of the PAH gene in Italian patients with hyperphenylalaninemia

Mol Genet Metab. 2002 Nov;77(3):260-6. doi: 10.1016/s1096-7192(02)00166-x.

Authors

T Bardelli¹, M A Donati, S Gasperini, F Ciani, F Belli, N Blau, A Morrone, E Zammarchi

Affiliation

¹ Metabolic and Neuromuscular Unit, Department of Pediatrics, University of Florence, Florence, Italy.

PMID: 12409276
DOI: 10.1016/s1096-7192(02)00166-x

Abstract

Hyperphenylalaninemia (HPA), due to a deficiency of phenylalanine hydroxylase (PAH) enzyme, is caused by mutations in the PAH gene. Molecular analysis in 23 Italian patients with PAH deficiency identified two novel (P281R, L287V) and 20 previously described genetic lesions in the PAH gene. The detection of the A403V amino acid substitution in combination with null mutations in patients with BH4-responsive PAH deficiency leads us to correlate it with BH4 responsiveness.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

DNA Mutational Analysis
Humans
Italy
Mutation
Phenylalanine Hydroxylase / deficiency
Phenylalanine Hydroxylase / genetics*
Phenylketonurias / genetics*

Substances

Phenylalanine Hydroxylase