Interpretation of consensus guidelines for the diagnosis and management of succinic semialdehyde dehydroge-nase deficiency formulated by the international SSADHD consensus group in 2024
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.
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