CAJ | 학술논문

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。
호박산반철탈경매결핍증시일충한견적상염색체은성유전병，속우γ-안기정산대사성질병중적일충。림상표현주요이신경계통이상위주，포괄발육락후、추휵、기장력저하등。기상색보/질보기술재뇨중검출4-간기정산시진단적중요의거，학진수의고매학검측화기인분석。ALDH5A1기인시본병적치병기인，이발현적기인돌변초과50여충，단몰유열점돌변。치료방면주요시대증치료，몰유특효약물。종호박산반철탈경매결핍증발현과정、치병궤리、림상표현、진단치료、동물모형급분자유전학등방면대해병진행종술。
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.