Article
Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninemia in southern Europe.
Human molecular genetics - 1 Oct 1993
Guldberg P, Romano V, Ceratto N, Bosco P, Ciuna M, Indelicato A, Mollica F, Meli C, Giovannini M, Riva E
Abstract excerpt
Hyperphenylalaninemia due to a deficiency of hepatic phenylalanine hydroxylase (PAH) is the most common inborn error of amino acid metabolism. Clinically, the disorder is highly heterogeneous, spanning from nonphenylketonuria hyperphenylalaninemia to classical phenylketonuria. Only little is know...
Topics
- Alleles
- Amino Acid Metabolism, Inborn Errors
- Base Sequence
- DNA Mutational Analysis
- Europe
- Genotype
- Humans
- Molecular Sequence Data
- Mutation
- Phenotype
- Phenylalanine
- Phenylalanine Hydroxylase
- Phenylketonurias
- Sicily