Neurologic Metabolic Diseases

Tyler Reimschisel

in Principles of Drug Therapy in Neurology

Second edition

Published on behalf of Oxford University Press

Published in print September 2010 | ISBN: 9780195146837
Published online April 2013 | e-ISBN: 9780199322961 | DOI:

Series: Contemporary Neurology Series

Neurologic Metabolic Diseases

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An inborn metabolic disease is a quantitative or qualitative defect in a biochemical reaction. Most metabolic diseases are due to enzyme dysfunction, and others are due to defective transport molecules. There are several hundred inborn metabolic diseases. Many of these diseases cause a neurologic phenotype. Instead of an encyclopedic review of the treatment of all neurologic metabolic diseases, this chapter includes a selection of prototypic inborn metabolic diseases and their treatment. Emphasis in placed on treatable conditions that are relatively common or that should be routinely considered in the evaluation of children with an undiagnosed neurologic disease.

Chapter.  10560 words.  Illustrated.

Subjects: Neurology

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