琥珀酸半醛脱氢酶缺乏症是一种罕见的常染色体隐性遗传病，属于γ-氨基丁酸代谢性疾病中的一种。临床表现主要以神经系统异常为主，包括发育落后、抽搐、肌张力低下等。气相色谱/质谱技术在尿中检出4-羟基丁酸是诊断的重要依据，确诊需依靠酶学检测和基因分析。ALDH5A1基因是本病的致病基因，已发现的基因突变超过50余种，但没有热点突变。治疗方面主要是对症治疗，没有特效药物。从琥珀酸半醛脱氢酶缺乏症发现过程、致病机理、临床表现、诊断治疗、动物模型及分子遗传学等方面对该病进行综述。%Succinic semialdehyde dehydrogenase(SSADH) deifciency is a rare autosomal recessive inherited metabolic disorder which is one of the neurotransmitter gamma-aminobutyric acid(GABA) desease. Clinical manifestations are mainly composed of the nervous system abnormalities, including developmental delay, convulsions, low muscle tone, etc. 4 - hydroxy butyric acid is an important marker for diagnosis which is detected by gas chromatography/mass spectrometry in urine. The disease confirmed need to rely on enzymology test and genetic analysis. Genetic mutations have been found more than 50, but no hot spot mutations in ALDH5A1. There is no speciifc drug for treatment. The discovery process, pathogenesis, clinical manifestation, diagnosis, treatment, animal models and molecular genetics are reviewed in this article.
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