Lee Angela, Weisenberg Judith, Toolan Elizabeth, Shinawi Marwan
Department of Pediatrics, Division of Genetics Children's Mercy Kansas City, UMKC School of Medicine Kansas City Missouri USA.
Departments of Pediatrics and Neurology Washington University School of Medicine Saint Louis Missouri USA.
JIMD Rep. 2025 May 5;66(3):e70019. doi: 10.1002/jmd2.70019. eCollection 2025 May.
Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine synthesis disorder caused by biallelic pathogenic variants in . 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.
胍乙酸甲基转移酶（GAMT）缺乏症是一种由双等位基因致病性变异引起的肌酸合成障碍。早期诊断和治疗可带来正常的神经认知结果，这促使其最近被纳入推荐统一筛查 panel。治疗通常包括补充肌酸和鸟氨酸，可伴有或不伴有精氨酸限制或苯甲酸钠。在此，我们报告了 3 例成年 GAMT 缺乏症患者的临床结果，他们在不同年龄开始补充肌酸和鸟氨酸。一名患者在 14 个月大时开始治疗，神经认知结果接近正常，突出了早期治疗的积极临床影响。我们的研究结果还强调了在整个成年期持续治疗的必要性，但需要进一步研究以了解其自然病史并确定成人 GAMT 缺乏症的最佳治疗方法。
