Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders.
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.
Testai
Fernando D
FD
Department of Neurology and Rehabilitation, Section of Cerebrovascular Disease and Neurological Critical Care, University of Illinois College of Medicine at Chicago, 912 S Wood Street, Chicago, IL 60612, USA. testai@uic.edu
Gorelick
Philip B
PB
D000818:Animals; D020022:Genetic Predisposition to Disease; D006712:Homocystinuria / Q000150:complications / Q000235:genetics; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000235:genetics; D008954:Models, Biological; D020521:Stroke / Q000209:etiology* / Q000235:genetics; D056806:Urea Cycle Disorders, Inborn / Q000150:complications / Q000235:genetics