Premium
Recurrent dystonia in homocystinuria: A metabolic pathogenesis
Author(s) -
Sinclair Alex J.,
Barling Lucy,
Nightingale Simon
Publication year - 2006
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.21045
Subject(s) - homocystinuria , dystonia , cystathionine beta synthase , medicine , pathophysiology , methionine , pyridoxine , pathogenesis , endocrinology , biochemistry , amino acid , chemistry , psychiatry
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 β‐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. © 2006 Movement Disorder Society