Guanidinoacetate N-methyltransferase deficiency: Case report and brief review of the literature

Guanidinoacetate N-methyltransferase deficiency: Case report and brief review of the literature

Guanidinoacetate N-methyltransferase (GAMT) deficiency is a rare autosomal recessive disorder characterized by a decrease in creatine synthesis, resulting in cerebral creatine deficiency syndrome (CCDS). GAMT deficiency is caused by mutations in the GAMT gene located on chromosome 19, which impairs...

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Bibliographic Details
Main Authors: Joshua L. Libell, BS, Dhairya A. Lakhani, MD, Aneri B. Balar, MD, Musharaf Khan, DO, Jeffrey S. Carpenter, MD, Joe T. Joseph, MD
Format: Article
Language:English
Published: Elsevier 2023-12-01
Series:Radiology Case Reports
Subjects:
Guanidinoacetate N-Methyltransferase
Creatine
Cerebral creatine deficiency syndrome
Global developmental delay
Genetic testing
Magnetic resonance spectroscopy
Online Access:http://www.sciencedirect.com/science/article/pii/S1930043323006623

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http://www.sciencedirect.com/science/article/pii/S1930043323006623

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