Advancements in the diagnosis and treatment of creatine deficiency syndrome

Kang Lulu; Wu Jing; Yang Yanling

doi:10.16689/j.cnki.cn11-9349/r.2026.03.006

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Electronic Journal of Metabolism and Nutrition of Cancer ›› 2026, Vol. 13 ›› Issue (3) : 365-369. DOI: 10.16689/j.cnki.cn11-9349/r.2026.03.006

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Advancements in the diagnosis and treatment of creatine deficiency syndrome

¹Kang Lulu, ¹Wu Jing, ²Yang Yanling

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Abstract

Creatine deficiency syndromes are a group of rare diseases caused by defects in creatine transporters, guanidinoacetate methyltransferase, or arginine-glycine amidinotransferase. These defects lead to brain creatine deficiency, impaired energy production, and reduced neural signal transmission function, resulting in neurological and psychiatric disorders such as intellectual disability, epilepsy, and behavioral abnormalities. With advances in molecular genetics and metabolomics, the genetic mechanisms and biochemical characteristics of creatine deficiency syndromes have been clarified. However, the clinical phenotypes are non-specific, and available therapies are limited. The diagnosis and management are difficult. This paper provides a detailed review of the pathogenesis, classification, clinical manifestations, laboratory investigations, and advances in diagnosis and treatment of creatine deficiency syndromes, aiming to provide a theoretical basis for clinical practice and to promote precise prevention and treatment.

Key words

Creatine / Guanidinoacetic acid / Rare diseases / Intellectual impairment / Epilepsy / Arginine-glycine amidinotransferase / Guanidinoacetate methyltransferase / Creatine transporter

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Kang Lulu, Wu Jing, Yang Yanling. Advancements in the diagnosis and treatment of creatine deficiency syndrome[J]. Electronic Journal of Metabolism and Nutrition of Cancer. 2026, 13(3): 365-369 https://doi.org/10.16689/j.cnki.cn11-9349/r.2026.03.006

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