Movement disorders and inborn errors of metabolism in adults: A diagnostic approach

Summary Inborn errors of metabolism (IEMs) may present in adolescence or adulthood with various movement disorders including parkinsonism, dystonia, chorea, tics or myoclonus. Main diseases causing movement disorders are metal-storage diseases, neurotransmitter synthesis defects, energy metabolism d...

Full description

Saved in:
Bibliographic Details
Published in:Journal of inherited metabolic disease 2008-06, Vol.31 (3), p.308-318
Main Authors: Sedel, F., Saudubray, J.-M., Roze, E., Agid, Y., Vidailhet, M.
Format: Article
Language:English
Subjects:
Adolescent
Adult
Amino Acids - metabolism
Biochemistry
Biological and medical sciences
Copper - metabolism
Energy Metabolism
Gangliosidosis, GM1 - diagnosis
Human Genetics
Humans
Internal Medicine
Iron - metabolism
Medical genetics
Medical sciences
Medicine
Medicine & Public Health
Metabolic Diseases
Metabolism, Inborn Errors - diagnosis
Movement Disorders - diagnosis
Neurotransmitter Agents - biosynthesis
Pediatrics
Review
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Summary Inborn errors of metabolism (IEMs) may present in adolescence or adulthood with various movement disorders including parkinsonism, dystonia, chorea, tics or myoclonus. Main diseases causing movement disorders are metal-storage diseases, neurotransmitter synthesis defects, energy metabolism disorders and lysosomal storage diseases. IEMs should not be missed as many are treatable. Here we briefly review IEMs causing movement disorders in adolescence and adults and propose a simple diagnostic approach to guide metabolic investigations based on the clinical course of symptoms, the type of abnormal movements, and brain MRI abnormalities.
ISSN:0141-8955
1573-2665
DOI:10.1007/s10545-008-0854-5