Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders

Arch Neurol. 2010 Feb;67(2):148-53. doi: 10.1001/archneurol.2009.333.


Several inherited metabolic disorders have been associated with stroke particularly in newborns, children, and young adults. In part 1, we discussed the genetics, stroke pathophysiology, clinical presentation, diagnosis, and treatment of Fabry disease and mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. In part 2, we overview homocystinuria, organic acidurias, and urea cycle disorders.

Publication types

  • Review

MeSH terms

  • Animals
  • Genetic Predisposition to Disease
  • Homocystinuria / complications
  • Homocystinuria / genetics
  • Humans
  • Metabolism, Inborn Errors / complications*
  • Metabolism, Inborn Errors / genetics
  • Models, Biological
  • Stroke / etiology*
  • Stroke / genetics
  • Urea Cycle Disorders, Inborn / complications
  • Urea Cycle Disorders, Inborn / genetics