Inherited metabolic disorders and stroke part 1: Fabry disease and mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes

Fernando D. Testai, Philip B. Gorelick

Research output: Contribution to journalReview articlepeer-review

77 Scopus citations

Abstract

Inherited metabolic disorders are single-gene genetic diseases associated with multiorgan damage. Some of these conditions increase the risk of stroke through a variety of mechanisms, and there is evidence that early recognition and initiation of appropriate treatment may improve prognosis. In this 2-part review we provide an update of the genetics, stroke pathophysiology, clinical manifestations, diagnosis, and treatment of metabolic disorders associated with stroke. In part 1, we concentrate on Fabry disease and mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. In part 2 we will review homocystinuria, organic acidurias, and urea cycle disorders.

Original languageEnglish (US)
Pages (from-to)19-24
Number of pages6
JournalArchives of Neurology
Volume67
Issue number1
DOIs
StatePublished - Jan 2010

ASJC Scopus subject areas

  • Clinical Neurology
  • Arts and Humanities (miscellaneous)

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