Recurrent dystonia in homocystinuria: a metabolic pathogenesis.
Mov Disord
; 21(10): 1780-2, 2006 Oct.
Article
en En
| MEDLINE
| ID: mdl-16856143
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.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Distonía
/
Homocistinuria
Tipo de estudio:
Diagnostic_studies
/
Etiology_studies
Límite:
Adult
/
Humans
/
Male
Idioma:
En
Revista:
Mov Disord
Asunto de la revista:
NEUROLOGIA
Año:
2006
Tipo del documento:
Article
País de afiliación:
Reino Unido