Succinic semialdehyde dehydrogenase (SSADH) deficiency is an autosomal recessive disorder of γ-aminobutyric acid (GABA) degradation, resulting in elevations of brain GABA and γ-hydroxybutyric acid (GHB). Previous magnetic resonance (MR) spectroscopy studies have shown increased levels of Glx in SSADH deficiency patients. Here in this work, we measure brain GABA in a large cohort of SSADH deficiency patients using advanced MR spectroscopy techniques that allow separation of GABA from overlapping metabolite peaks. We observed significant increases in GABA concentrations in SSADH deficiency patients for all 3 brain regions that were evaluated. Although GABA levels were higher in all 3 regions, each region had different patterns in terms of GABA changes with respect to age. We also report results from structural magnetic resonance imaging (MRI) of the same cohort compared with age-matched controls. We consistently observed signal hyperintensities in globus pallidus and cerebellar dentate nucleus.

琥珀酸半醛脱氢酶 (SSADH) 缺乏症是一种常染色体隐性遗传的γ-氨基丁酸 (GABA) 降解性疾病，导致脑 GABA 和 γ-羟基丁酸 (GHB) 升高。以前的磁共振 (MR) 光谱研究表明，SSADH 缺乏症患者的 Glx 水平升高。在这项工作中，我们使用先进的 MR 光谱技术测量一大群 SSADH 缺乏症患者的脑 GABA，该技术允许将 GABA 从重叠的代谢物峰中分离出来。我们观察到 SSADH 缺乏症患者的所有 3 个被评估的大脑区域的 GABA 浓度显着增加。尽管所有 3 个区域的 GABA 水平都较高，但每个区域在 GABA 随年龄的变化方面具有不同的模式。我们还报告了与年龄匹配的对照组相比，同一队列的结构磁共振成像 (MRI) 的结果。我们一直观察到苍白球和小脑齿状核的信号高信号。