2023: Prevalence and treatment of GAMT deficiency and CTD at the Children’s Hospital of Fudan University (Shanghai, China)

ACD 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 free article on PubMed: Fourteen cases of cerebral creatine deficiency syndrome in children: a cohort study in China