Two cases of creatine deficiency syndrome caused by GAMT gene mutations and literature review.
10.7499/j.issn.1008-8830.2411062
- Author:
Ting-Ting ZHAO
1
;
Zou PAN
1
;
Jian-Min ZHONG
;
Hai-Yun TANG
;
Fei YIN
1
;
Jing PENG
1
;
Chen CHEN
1
Author Information
1. Children's Medical Center, Xiangya Hospital, Central South University, Changsha 410008, China.
- Publication Type:English Abstract
- Keywords:
Child;
Creatine deficiency syndrome;
Epilepsy;
GAMT gene;
Gene mutation;
Intellectual disability
- MeSH:
Child;
Female;
Humans;
Male;
Creatine/deficiency*;
Guanidinoacetate N-Methyltransferase/deficiency*;
Intellectual Disability/genetics*;
Mutation;
Retrospective Studies;
Rhabdomyolysis/genetics*;
Language Development Disorders;
Movement Disorders/congenital*
- From:
Chinese Journal of Contemporary Pediatrics
2025;27(3):340-346
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVES:To summarize the clinical manifestations and genetic characteristics of creatine deficiency syndrome (CDS) caused by GAMT gene mutations.
METHODS:A retrospective analysis was conducted on the clinical and genetic data of two children diagnosed with GAMT deficiency-type CDS at the Children's Medical Center of Xiangya Hospital, Central South University, from December 2020 to December 2024.
RESULTS:The two patients presented with symptoms in infancy, and both had compound heterozygous mutations in the GAMT gene. Case 1 exhibited seizures and intellectual disability, while Case 2 had intellectual disability and attention-deficit hyperactivity disorder. Magnetic resonance spectroscopy of cranial MRI in both patients indicated reduced creatine peaks. After creatine treatment, seizures in Case 1 were controlled, but both patients continued to experience intellectual disabilities and behavioral issues. As of December 2024, a total of 21 cases have been reported in China (including this study), and 115 cases have been reported abroad. All patients exhibited developmental delay or intellectual disabilities, with 66.9% (91/136) experiencing seizures, 33.8% (46/136) presenting with motor disorders, and 36.8% (50/136) having behavioral problems. Seventy-five percent (102/136) of patients received creatine treatment, leading to significant improvements in seizures and motor disorders, although cognitive improvement was not substantial.
CONCLUSIONS:GAMT deficiency-type CDS is rare and presents with nonspecific clinical features. Timely diagnosis facilitates targeted treatment, which can partially improve prognosis.
