Sergi Consolato, Parayil Sankaran Bindu
University of Alberta
The Children Hospital at Westmead Clinical School, Sydney Medical school, The faculty of Medicine and Health, The University of Sydney, NSW, Australia
Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal recessive disorder that affects the degradation of gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter of the brain. The disorder results from mutations in the gene aldehyde dehydrogenase 5 family member A1 (ALDH5A1). Approximately 450 patients have been diagnosed worldwide. As the name suggests, the underlying cause is the deficiency of the enzyme succinic semialdehyde dehydrogenase, which has an important role in the metabolism of gamma-aminobutyric acid (GABA). The biochemical hallmark is the accumulation of gamma-aminobutyric acid in body fluids. The affected individuals present with non-specific and variable neurological features, and a high index of suspicion is required for diagnosis. However, the characteristic biochemical and neuroimaging findings often lead to diagnostic suspicion and facilitate targeted metabolic and genetic testing.
琥珀酸半醛脱氢酶（SSADH）缺乏症是一种罕见的常染色体隐性疾病，会影响γ-氨基丁酸（GABA）的降解，GABA是大脑主要的抑制性神经递质。该疾病由醛脱氢酶5家族成员A1（ALDH5A1）基因的突变引起。全球约有450名患者被诊断出患有此病。顾名思义，根本原因是琥珀酸半醛脱氢酶缺乏，该酶在γ-氨基丁酸（GABA）的代谢中起重要作用。生化标志是γ-氨基丁酸在体液中的积累。受影响的个体表现出非特异性和多变的神经学特征，诊断需要高度的怀疑指数。然而，特征性的生化和神经影像学表现常常引发诊断怀疑，并有助于进行针对性的代谢和基因检测。
