title: Hyperphenylalaninemia and birth weight.
abstract: Hyperphenylalaninemias (HPAs) are due to autosomal recessive inherited deficiency of phenylalanine hydroxylase and include three different biochemical and clinical phenotypes: classic phenylketonuria, mild phenylketonuria and persistent HPA. Recently the relationship between birth weight and HPA has been investigated. We performed an evaluation of birth weight in our 260 HPA patients. Our results do not support the view that birth weight is reduced in HPA patients and we found no correlation between birth weight and severity of the disease. Only a better knowledge of genetic mechanisms involved in HPA can clarify the interaction between HPA and fetal development.
authors.affiliation: Dipartimento di Pediatria, Università di Catania, via S. Sofia, 78, 95123 Catania, Italy. sebastiano.bianca@tiscalinet.it
authors.forename: Sebastiano
authors.initials: S
authors.lastname: Bianca
authors.forename: Concetta
authors.initials: C
authors.lastname: Meli
authors.forename: Barbara
authors.initials: B
authors.lastname: Barrano
authors.forename: Florindo
authors.initials: F
authors.lastname: Mollica
mesh_terms: D001724:Birth Weight; D006801:Humans; D007231:Infant, Newborn; D010661:Phenylketonurias / Q000503:physiopathology*; D012802:Sicily