title: Phenylketonuria: an update.
abstract: Phenylketonuria is a flagship inborn error of metabolism and has been at the forefront of our growing understanding, diagnosis, and treatment of this family of disorders. In this article, the current understanding of its diagnosis, treatment, and complex molecular biology and physiology is reviewed. Recent papers exploring newer and less well-delineated areas of cofactor supplementation and genetic and epigenetic modification of the genotypic expression are presented. The excitement surrounding the continued exploration of the hyperphenylalaninemias is emphasized.
authors.affiliation: Departments of Psychiatry, Pediatrics and Human Genetics, and the Mental Retardation Research Center, David Geffen School of Medicine at UCLA, Los Angeles, California 90024-1759, USA. scederbaum@mednet.ucla.edu
authors.forename: Stephen
authors.initials: S
authors.lastname: Cederbaum
mesh_terms: D000818:Animals; D005838:Genotype; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D008967:Molecular Biology; D015997:Neonatal Screening; D010649:Phenylalanine / Q000097:blood; D010661:Phenylketonurias / Q000097:blood / Q000175:diagnosis* / Q000178:diet therapy / Q000235:genetics
chemical_list: D010649:Phenylalanine