title: Neuropsychiatric Symptoms in Inborn Errors of Metabolism: Incorporation of Genomic and Metabolomic Analysis into Therapeutics and Prevention.
abstract: Inborn errors of metabolism may present as a spectrum ranging from neonatal lethality to non-specific symptoms. Neuropsychiatric manifestations have been identified in three groups: those presenting as emergencies, those with chronic fluctuating symptoms, and those associated with mental retardation. Milder central nervous system specific inborn errors of metabolism may also present later in life with isolated psychiatric symptoms. Inborn errors of metabolism presenting with neuropsychiatric symptoms are described with illustrative case examples. Metabolomic and genomic approaches to identification and treatment are described.
authors.affiliation: University of Pittsburgh Assistant Professor of Psychiatry, School of MedicineWestern Psychiatric Institute and Clinic 100 N. Bellefield Ave., Rm. 320Pittsburgh, PA 15213, [Tel:(412) 246-5597;Fax:(412) 246-5610; thomasla@upmc.edu ].
authors.forename: Lisa
authors.initials: L
authors.lastname: Pan
authors.forename: Jerry
authors.initials: J
authors.lastname: Vockley
keywords: CNS-specific; depression; genomics; inborn error of metabolism; metabolomics; neuropsychiatric; psychosis; suicide