title: Two novel genetic lesions and a common BH4-responsive mutation of the PAH gene in Italian patients with hyperphenylalaninemia.
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.
authors.affiliation: Metabolic and Neuromuscular Unit, Department of Pediatrics, University of Florence, Florence, Italy.
authors.forename: T
authors.initials: T
authors.lastname: Bardelli
authors.forename: M A
authors.initials: MA
authors.lastname: Donati
authors.forename: S
authors.initials: S
authors.lastname: Gasperini
authors.forename: F
authors.initials: F
authors.lastname: Ciani
authors.forename: F
authors.initials: F
authors.lastname: Belli
authors.forename: N
authors.initials: N
authors.lastname: Blau
authors.forename: A
authors.initials: A
authors.lastname: Morrone
authors.forename: E
authors.initials: E
authors.lastname: Zammarchi
mesh_terms: D004252:DNA Mutational Analysis; D006801:Humans; D007558:Italy; D009154:Mutation; D010651:Phenylalanine Hydroxylase / Q000172:deficiency / Q000235:genetics*; D010661:Phenylketonurias / Q000235:genetics*
chemical_list: D010651:Phenylalanine Hydroxylase