Treatment and Improved Outcomes of Three Adult Patients With Guanidinoacetate Methyltransferase (GAMT) Deficiency

Treatment and Improved Outcomes of Three Adult Patients With Guanidinoacetate Methyltransferase (GAMT) Deficiency

ABSTRACT Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine synthesis disorder caused by biallelic pathogenic variants in GAMT. Early diagnosis and treatment can lead to normal neurocognitive outcomes, which has prompted its recent addition to the Recommended Uniform Screening Panel....

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Bibliographic Details
Main Authors: Angela Lee, Judith Weisenberg, Elizabeth Toolan, Marwan Shinawi
Format: Article
Language:English
Published: Wiley 2025-05-01
Series:JIMD Reports
Subjects:
creatine
GAMT
newborn screening
ornithine
Online Access:https://doi.org/10.1002/jmd2.70019
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