[Movement disorders in miscellaneous disorders--inherited metabolic diseases].
A variety of inheritable metabolic disorders produce movement disorders. A lists of conditions associated with tremor, athetosis, chorea, dystonia and myoclonus are presented as a guide for the differential diagnosis of such abnormal involuntary movements. The list includes aminoacidopathies, lipidoses, mucopolysaccharidoses, mucolipidoses, organic acidemias, mitochondrial cytopathies and disorders of carbohydrate, purine, and metal metabolism. Clinical, pathological and biochemical features of movement disorders of three typical examples, Wilson's disease, Lesch-Nyhan syndrome and glutaric acidemia type 1, are described.
Mizuguchi
M
M
Department of Pediatrics, Faculty of Medicine, University of Tokyo.
Kamoshita
S
S
D003937:Diagnosis, Differential; D006527:Hepatolenticular Degeneration / Q000150:complications / Q000503:physiopathology; D006801:Humans; D007926:Lesch-Nyhan Syndrome / Q000150:complications / Q000503:physiopathology; D008661:Metabolism, Inborn Errors / Q000150:complications*; D009069:Movement Disorders / Q000175:diagnosis / Q000209:etiology*