Neuropsychiatric Symptoms in Inborn Errors of Metabolism: Incorporation of Genomic and Metabolomic Analysis into Therapeutics and Prevention

Overview

Journal Curr Genet Med Rep

Specialty Genetics

Date 2013 Mar 26

PMID 23525354

Citations 5

Authors

Lisa Pan

Jerry Vockley

Affiliations

Soon will be listed here.

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.

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