Inherited metabolic diseases in neurodevelopmental and neurobehavioral disorders

Seminars in Pediatric Neurology
Michael A Kayser

Abstract

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.

References

Jun 1, 1992·European Journal of Pediatrics·C JakobsK M Gibson
Nov 1, 1988·European Journal of Pediatrics·J JaekenM F Vincent
Oct 1, 1995·Trends in Pharmacological Sciences·F J Gonzalez, P Fernandez-Salguero
Jan 1, 1994·Journal of Inherited Metabolic Disease·A H van GennipH D Bakker
Apr 1, 1996·Neuropediatrics·J Frahm, F Hanefeld
Jul 9, 2003·Arthritis and Rheumatism·Pablo García-PavíaMichael A Becker
Dec 29, 2004·Annals of Neurology·Dong WangDarryl C De Vivo
Jan 15, 2005·American Journal of Medical Genetics. Part a·H Caldeira AraújoM Duran
Feb 14, 2007·Archives of Neurology·Juan M PascualDarryl C De Vivo

❮ Previous
Next ❯

Citations

Dec 1, 2009·International Journal of Pediatrics·A BenvenutoP Curatolo
Aug 21, 2009·World Journal of Pediatrics : WJP·Arianna BenvenutoPaolo Curatolo
Jan 4, 2012·Molecular Genetics and Metabolism·Clara D M van Karnebeek, Sylvia Stockler
Sep 11, 2012·Journal of Neurodevelopmental Disorders·Ghada A Abu ShmaisAfaf K El-Ansary
Dec 25, 2012·Seizure : the Journal of the British Epilepsy Association·Alois J SchiefeckerRaimund Helbok
Dec 20, 2020·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Liliana Rojas-CharryMichael J Schmeisser

❮ Previous
Next ❯

Related Concepts

Related Feeds

Blood Brain Barrier

The blood brain barrier is a border that separates blood from cerebrospinal fluid. Discover the latest search on this highly selective semipermeable membrane here.

Ataxias

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on different types of ataxias here.

Biosynthetic Transformations

Biosyntheic transformtions are multi-step, enzyme-catalyzed processes where substrates are converted into more complex products in living organisms. Simple compounds are modified, converted into other compounds, or joined together to form macromolecules. Discover the latest research on biosynthetic transformations here.

Ataxias (MDS)

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on ataxia here.

Ataxia

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on ataxia here.

Auditory Perception

Auditory perception is the ability to receive and interpret information attained by the ears. Here is the latest research on factors and underlying mechanisms that influence auditory perception.

Blood Brain Barrier Chips

The blood brain barrier (BBB) is comprised of endothelial cells that regulate the influx and outflux of plasma concentrations. Lab-on-a-chip devices allow scientists to model diseases and mechanisms such as the passage of therapeutic antibodies across the BBB. Discover the latest research on BBB chips here.

Autism: Treatment Targets

The absence of effective treatments for autism are due to the high clinical and genetic heterogeneity between affected individuals, restricted knowledge of the underlying pathophysiological mechanisms, and the lack of reliable diagnostic biomarkers. Identification of more homogenous biological subgroups is therefore essential for the development of novel treatments based on the molecular mechanisms underpinning autism and autism spectrum disorders. Find the latest research on autism treatment targets here.

Autism

Autism spectrum disorder is associated with challenges with social skills, repetitive behaviors, and often accompanied by sensory sensitivities and medical issues. Here is the latest research on autism.

Blood Brain Barrier Regulation in Health & Disease

The blood brain barrier is essential in regulating the movement of molecules and substances in and out of the brain. Disruption to the blood brain barrier and changes in permeability allow pathogens and inflammatory molecules to cross the barrier and may play a part in the pathogenesis of neurodegenerative disorders. Here is the latest research in this field.

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

CSF & Lymphatic System

This feed focuses on Cerebral Spinal Fluid (CSF) and the lymphatic system. Discover the latest papers using imaging techniques to track CSF outflow into the lymphatic system in animal models.

Related Papers

Journal of Inherited Metabolic Disease
A García-CazorlaG F Hoffmann
Current Neurology and Neuroscience Reports
Nassim Zecavati, Sarah J Spence
Pediatrics
John B MoeschlerAmerican Academy of Pediatrics Committee on Genetics
Lancet
Susan E LevyRobert T Schultz
© 2022 Meta ULC. All rights reserved