Neurodegenerative disorders and metabolic disease

Abstract

Most genetic causes of neurodegenerative disorders in childhood are due to neurometabolic disease. There are over 200 disorders, including aminoacidopathies, creatine disorders, mitochondrial cytopathies, peroxisomal disorders and lysosomal storage disorders. However, diagnosis can pose a challenge to the clinician when patients present with non-specific problems like epilepsy, developmental delay, autism, dystonia and ataxia. The variety of specialist tests involved can also be daunting. This review aims to give a practical approach to the investigation and diagnosis of neurometabolic disease from the neonatal period to late childhood while prioritising disorders where there are therapeutic options. In particular, patients who have a complex clinical picture of several neurological and non-neurological features should be investigated.

Maternal Factors that Induce Epigenetic Changes Contribute to Neurological Disorders in Offspring

“…There is a wide range of NDs detected in newborns and adults, including Attention-Deficit Hyperactivity Disorder (ADHD), autistic spectrum disorders, epilepsy, Down syndrome, Prader-Willi syndrome, schizophrenia, congenital immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome, Rett syndrome, bipolar disorder, and Tourette’s syndrome [2,3]. Among these, ADHD has been shown to be the most prevalent worldwide.…”

Deficiency of aminopeptidase P1 causes behavioral hyperactivity, cognitive deficits, and hippocampal neurodegeneration

“…The accumulation of toxic metabolites or deficiency of necessary substances resulting from a defective metabolic process frequently leads to brain dysfunction and abnormalities. Inborn errors of metabolism (IEMs), also known as inheritable metabolic diseases, are common causes of brain injury and dysfunction (Gropman 2012;Kahler & Fahey 2003;Pierre 2013;Sedel et al 2007;Wolf et al 2005). Most IEMs are caused by mutations in genes coding for enzymes, and hundreds of IEMs have been discovered to date.…”

Susceptibility-weighted imaging in pediatric neuroimaging

“…Neurodegenerative disorders are rare in childhood. Neurometabolic disease likely accounts for a significant proportion of neurodegenerative diseases secondary to a genetic cause . Neuroimaging is an essential part of the diagnostic work‐up for the patient with suspected neurometabolic disease and may guide clinicians to perform targeted metabolic or genetic analysis.…”