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Inherited Metabolic Disorders Presenting with Ataxia

Department of Pharmacology and Toxicology, University of Toronto, Toronto, ON M5S 1A8, Canada
Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada
Department of Paediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada
Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2020, 21(15), 5519;
Received: 12 June 2020 / Revised: 26 July 2020 / Accepted: 29 July 2020 / Published: 1 August 2020
Ataxia is a common clinical feature in inherited metabolic disorders. There are more than 150 inherited metabolic disorders in patients presenting with ataxia in addition to global developmental delay, encephalopathy episodes, a history of developmental regression, coarse facial features, seizures, and other types of movement disorders. Seizures and a history of developmental regression especially are important clinical denominators to consider an underlying inherited metabolic disorder in a patient with ataxia. Some of the inherited metabolic disorders have disease specific treatments to improve outcomes or prevent early death. Early diagnosis and treatment affect positive neurodevelopmental outcomes, so it is important to think of inherited metabolic disorders in the differential diagnosis of ataxia. View Full-Text
Keywords: inherited metabolic disorders; ataxia inherited metabolic disorders; ataxia
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Silver, G.; Mercimek-Andrews, S. Inherited Metabolic Disorders Presenting with Ataxia. Int. J. Mol. Sci. 2020, 21, 5519.

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