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Chapter 28 - Disorders of Creatine Metabolism: Creatine Deficiency Syndromes and Movement Disorders

from Section II - A Metabolism-Based Approach to Movement Disorders and Inherited Metabolic Disorders

Published online by Cambridge University Press:  24 September 2020

By
Saadet Mercimek-Andrews
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

Creatine is synthetized from two amino acids, arginine and glycine, in the kidney, liver, and pancreas. Two enzymes that are involved in the synthesis of creatine are L-arginine:glycine amidinotransferase (AGAT) (EC 2.1.4.1), highly expressed in the kidney, and guanidinoacetate N-methyltransferase (GAMT) (EC 2.1.1.2), which is highly expressed in the liver.

Type
Chapter
Information
Movement Disorders and Inherited Metabolic Disorders
Recognition, Understanding, Improving Outcomes
 , pp. 342 - 347
Publisher: Cambridge University Press
Print publication year: 2020

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References

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