title: Recurrent dystonia in homocystinuria: a metabolic pathogenesis.
abstract: Dystonia complicating homocystinuria is extremely rare in the absence of thromboembolic disease. We report a unique case of recurrent dystonia in a patient with homocystinuria secondary to pyridoxine-unresponsive cystathionine beta-synthase deficiency. Brain MRI was normal. Two biochemical markers for homocystinuria, homocystine and methionine, were markedly elevated during periods when our patient manifested dystonia. These findings suggest that accumulation of sulfur-containing amino acids may contribute to the pathophysiology of dystonia in patients with homocystinuria.
authors.affiliation: Department of Neurology, Queen Elizabeth Hospital, Birmingham, United Kingdom. a.b.sinclair@bham.ac.uk
authors.forename: Alex J
authors.initials: AJ
authors.lastname: Sinclair
authors.forename: Lucy
authors.initials: L
authors.lastname: Barling
authors.forename: Simon
authors.initials: S
authors.lastname: Nightingale
mesh_terms: D000328:Adult; D001921:Brain / Q000378:metabolism; D004421:Dystonia / Q000175:diagnosis* / Q000503:physiopathology; D005494:Folic Acid Deficiency / Q000175:diagnosis / Q000503:physiopathology; D006711:Homocystine / Q000097:blood; D006712:Homocystinuria / Q000175:diagnosis* / Q000503:physiopathology; D006801:Humans; D008297:Male; D008715:Methionine / Q000097:blood; D012008:Recurrence; D014103:Torticollis / Q000175:diagnosis / Q000503:physiopathology
chemical_list: D006711:Homocystine; D008715:Methionine