Inherited metabolic diseases in neurodevelopmental and neurobehavioral disorders.
In the past few years, there has been a veritable explosion in the discovery of "new" inborn errors of metabolism. These new conditions are involved in complex pathways of intermediary metabolism affecting processes heretofore unknown. The phenotypes of these new conditions are in many ways milder than the classically described metabolic disorders. Several of these conditions present as nonsyndromic neurodevelopmental and/or neurobehavioral disorders. As such, these conditions should be considered in the differential diagnosis of conditions such as mental retardation, autism spectrum disorders, movement disorders, and cerebral palsy. This article reviews several of these recently described conditions including the clinical presentation, the biochemical profile, the diagnostic approach, and therapeutic options.
Kayser
Michael A
MA
Warren Clinic Center for Genetics, Center for Genetic Testing at Saint Francis, 6465 South Yale Avenue, Tulsa, OK 74136, USA. MAKayser@saintfrancis.com
D001321:Autistic Disorder / Q000175:diagnosis* / Q000378:metabolism / Q000628:therapy; D003937:Diagnosis, Differential; D050937:Guanidinoacetate N-Methyltransferase / Q000172:deficiency; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000175:diagnosis* / Q000378:metabolism / Q000628:therapy; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000378:metabolism / Q000628:therapy; D009069:Movement Disorders / Q000175:diagnosis / Q000378:metabolism / Q000628:therapy; D015997:Neonatal Screening / Q000379:methods*; D050644:Succinate-Semialdehyde Dehydrogenase / Q000172:deficiency
D050644:Succinate-Semialdehyde Dehydrogenase; D050937:Guanidinoacetate N-Methyltransferase