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. 2013 Mar 1;1(1):65-70.
doi: 10.1007/s40142-012-0004-0. Epub 2013 Jan 8.

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

Lisa Pan  1 , Jerry Vockley
Affiliations

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

Lisa Pan et al. Curr Genet Med Rep. .

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.

Keywords: CNS-specific; depression; genomics; inborn error of metabolism; metabolomics; neuropsychiatric; psychosis; suicide.

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Figures

Figure 1
Figure 1
Course and treatment of treatment refractory depression in a patient with a new variant of GTP-Cyclohydrolase Deficiency [19] CDRS Children's Depression Rating Scale, SSRI Selective Serotonin Reuptake Inhibitor, SNRI Serotonin-Norepinephrine Reuptake Inhibitor, MAOI Monoamine Oxidase Inhibitor, ECT Electroconvulsive Therapy, 5HTP 5-Hydroxytryptophan, 5HIAA 5-Hydroxyindoleacetic Acid, HVA Homovanillic Acid, BH4 Tetrahydrobiopterin
See this image and copyright information in PMC

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