Movement disorders and inborn errors of metabolism in adults: a diagnostic approach.
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.
Sedel
F
F
Federation of Nervous System Diseases, Salpêtrière Hospital, Assistance Publique Hôpitaux de Paris, Paris, France. frederic.sedel@psl.aphp.fr
Saudubray
J-M
JM
Roze
E
E
Agid
Y
Y
Vidailhet
M
M
D000293:Adolescent; D000328:Adult; D000596:Amino Acids / Q000378:metabolism; D003300:Copper / Q000378:metabolism; D004734:Energy Metabolism; D016537:Gangliosidosis, GM1 / Q000175:diagnosis; D006801:Humans; D007501:Iron / Q000378:metabolism; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D009069:Movement Disorders / Q000175:diagnosis*; D018377:Neurotransmitter Agents / Q000096:biosynthesis
D000596:Amino Acids; D018377:Neurotransmitter Agents; D003300:Copper; D007501:Iron