Interpretation of consensus guidelines for the diagnosis and management of succinic semialdehyde dehydroge-nase deficiency formulated by the international SSADHD consensus group in 2024
10.3760/cma.j.cn101070-20240321-00171
- VernacularTitle:2024年国际SSADHD共识小组《琥珀酸半醛脱氢酶缺陷病的诊断和管理共识指南》解读
- Author:
Beibei KANG
1
;
Lei XU
;
Qiang YU
;
Yanping FAN
;
Lijie ZHU
;
Xuemei ZHENG
;
Jianguo CAO
;
Jiaqin WANG
Author Information
1. 深圳市福田区妇幼保健院儿童保健科，深圳 518038
- Keywords:
Succinic semialdehyde dehydrogenase deficiency;
4-hydroxybutyrate;
γ-aminobutyric acid;
ALDH5A1 gene
- From:
Chinese Journal of Applied Clinical Pediatrics
2024;39(10):738-742
- CountryChina
- Language:Chinese
-
Abstract:
Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare autosomal recessive neurometabolic disease.Pathogenic mutations in ALDH5A1 genes lead to abnormalities in the structure, activity and function of succinic semialdehyde dehydrogenase, resulting in a series of neurological damage.Due to the rarity of SSADHD and the huge differences in its clinical manifestations, it often leads to misdiagnosis or delayed diagnosis, and the treatment is mainly symptomatic.There is no specific drug or treatment.In March 2024, the SSADHD consensus group, composed of SSADHD researchers from 19 institutions in 11 countries and regions, released the " Consensus Guidelines for the Diagnosis and Management of Succinic Semialdehyde Dehydrogenase Deficiency" , which elaborates on the definition, epidemiology, clinical manifestations, diagnosis, and treatment of SSADHD, aiming to standardize and unify the diagnosis and management of SSADHD.This article interprets the key contents of the guidelines, in order to provide guidance for the early screening, diagnosis and treatment of SSADHD in China.
