Fourteen cases of cerebral creatine deficiency syndrome in children: a cohort study in China

Abstract: 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. 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 GAMT deficiency. Male patients with SLC6A8 deficiency showed only limited improvement on combined therapy.

Parent Summary: Sun et al. screened for the presence of a CCDS in 3,586 patients who exhibited a developmental delay. Screening involved measuring creatine and guanidinoacetate (GAA) levels in blood, creatine:creatinine levels in urine, and creatine signals in the brain. In total, 14 patients had a confirmed CCDS (6 with GAMT deficiency, 8 with CTD). There were also brain structural differences in some of the patients. In patients with GAMT deficiency, treatment involved a low-protein diet and supplementation with creatine and ornithine. After 2 to 3 weeks of treatment, creatine and GAA levels in blood returned to a normal range; after 6 to 9 months, their brain’s creatine signals increased dramatically. In 3 patients with GAMT deficiency, epilepsy was resolved after 3 to 6 months of treatment. Overall, treatment was associated with a general improvement in the children with GAMT deficiency. For patients with CTD, there was minimal (if any) improvement given supplementation treatment with creatine, glycine, and/or arginine. In conclusion, the authors recommended that patients with a developmental delay, feeding or growth difficulties, and epilepsy should be screened for CCDS.

Link to article: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10248938/?report=reader

PubMed: https://pubmed.ncbi.nlm.nih.gov/37305710

Authors: Weihua Sun, Yi Wang, Mengyuan Wu, Hongjiang Wu, Xiaomin Peng, Yingyan Shi, Feifan Xiao,Bingbing Wu, Wenhao Zhou, and Wei Lu

Key Terms: GAMT, CTD, Diagnostic, Supplements, Clinical Study, Pediatric Patient, Male Patient