title: 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.
authors.affiliation: Division of Women’s and Children’s Services, Bristol Royal Hospital for Children, Level 6, UHBT, Education Centre, Upper Maudlin Street, Bristol BS2 8AE, UK. germaine.pierre@uhbristol.nhs.uk
authors.forename: Germaine
authors.initials: G
authors.lastname: Pierre
mesh_terms: D002648:Child; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008659:Metabolic Diseases / Q000150:complications / Q000175:diagnosis* / Q000503:physiopathology; D019636:Neurodegenerative Diseases / Q000150:complications / Q000175:diagnosis* / Q000503:physiopathology
keywords: Metabolic; developmental delay; encephalopathy; neurodegenerative; neurometabolic