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Homocystinuria, Organic Acidurias, and Urea Cycle Disorders

Fernando D. Testai, MD, PhD; Philip B. Gorelick, MD, MPH

Arch Neurol. 2010;67(2):148-153.

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.

Author Affiliations: Department of Neurology and Rehabilitation, Section of Cerebrovascular Disease and Neurological Critical Care and Center for Stroke Research, University of Illinois College of Medicine at Chicago.

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