Document Type

Article

Publication Date

5-2025

Identifier

DOI: 10.1002/jmd2.70019; PMCID: PMC12053078

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. Treatment typically includes creatine and ornithine supplementation, with or without arginine restriction or sodium benzoate. Here, we present the clinical outcomes of 3 adult patients with GAMT deficiency who began creatine and ornithine supplementation at varying ages. One patient started on treatment at 14 months of age and has had near-normal neurocognitive outcomes, highlighting the positive clinical impact of early treatment. Our findings also emphasize the need to continue treatment throughout adulthood, but further research is required to understand the natural history and determine the optimal treatment of GAMT deficiency in adults.

Journal Title

JIMD Rep

Volume

66

Issue

3

First Page

70019

Last Page

70019

PubMed ID

40330029

Keywords

GAMT; creatine; newborn screening; ornithine

Comments

This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

Publisher's Link: https://onlinelibrary.wiley.com/doi/10.1002/jmd2.70019

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