ArticleTranslational pediatrics2023
Fourteen cases of cerebral creatine deficiency syndrome in children: a cohort study in China.
Article in Translational pediatrics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 7 citations in OpenAlex.
- Establishing a core outcome set for creatine transporter deficiency and guanidinoacetate methyltransferase deficiency.Orphanet journal of rare diseases · 2025Article
- [Two cases of creatine deficiency syndrome caused byZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025Review
- Diagnosis and Treatment of X-Linked Creatine Transporter Deficiency: Case Report and Literature Review.Brain sciences · 2023Review
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: This study sought to analyze the clinical characteristics, biochemical metabolic indications, treatment results, and genetic spectrum of cerebral creatine deficiency syndrome (CCDS), estimate the prevalence of CCDS in Chinese children and provide a reference to guide clinical practice. Methods: We performed a retrospective cohort study of 3,568 children with developmental delay at Children's Hospital of Fudan University over a 6-year period (January 2017-December 2022). Metabolites in the blood/urine were detected by liquid chromatography-tandem mass spectrometry (LC-MS/MS), and genetic testing was performed by next-generation sequencing (NGS). The patients with suspected CCDS were ultimately diagnosed by magnetic resonance spectroscopy (MRS). The patients were then treated and followed up. All the reported cases of CCDS, their gene mutations, and treatment results in China were summarized. Results: Ultimately, 14 patients were diagnosed with CCDS. The age of onset was between 1-2 years. All the patients had developmental delay, 9 had epilepsy, and 8 had movement or behavioral disorders. A total of 17 genetic variants were identified, including 6 novel variants. c.403G>A, c.491dupG of the guanidinoacetate methyltransferase ( Conclusions: The prevalence of CCDS is ~0.39% in Chinese children with developmental delay. A low-protein diet, Cr and, ornithine were useful for patients with
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