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Chapter 32 - Novel Therapeutic Approaches to Metabolic Movement Disorders

from Section III - Conclusions and Future Directions

Published online by Cambridge University Press:  24 September 2020

By
Gabriella A. Horvath  and
Clara D. van Karnebeek
Edited by
Darius Ebrahimi-Fakhari  and
Phillip L. Pearl
Darius Ebrahimi-Fakhari
Affiliation:
Harvard Medical School
Phillip L. Pearl
Affiliation:
Harvard Medical School
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Summary

Movement disorders are common symptoms in patients with inborn errors of metabolism (IEMs), and have a serious impact on their quality of life. Treatment of the movement disorder is usually causal, i.e. aimed at the underlying condition. More and more therapeutic strategies are emerging for many IEMs, varying from dietary restriction/supplementation, enzyme cofactor/vitamin supplementation, enzyme-replacement, substrate inhibition, substrate reduction, bone marrow or hematopoietic stem-cell transplantation (HSCT), gene therapy, or newer symptomatic treatment modalities. Dietary manipulations typically aim at substrate reduction, i.e. decreasing the intake of toxic precursors or providing the deficient product. Vitamins and cofactors are used because in some disorders the synthesis of these is affected, while in others these catalyze residual enzyme activity and stability, or act as chaperones.

Type
Chapter
Information
Movement Disorders and Inherited Metabolic Disorders
Recognition, Understanding, Improving Outcomes
 , pp. 393 - 410
Publisher: Cambridge University Press
Print publication year: 2020

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