Department of Radiology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Department of Radiology, Brigham and Women's Hospital, Boston, MA, USA.
J Child Neurol. 2021 Nov;36(13-14):1162-1168. doi: 10.1177/0883073821991295. Epub 2021 Feb 9.
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 GABA 降解的常染色体隐性疾病，导致脑 GABA 和 γ-羟基丁酸（GHB）升高。先前的磁共振（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 光谱技术测量了大量 SSADH 缺乏症患者的脑 GABA，该技术允许 GABA 与重叠代谢物峰分离。我们观察到所有 3 个被评估脑区的 SSADH 缺乏症患者的 GABA 浓度显著增加。尽管所有 3 个区域的 GABA 水平都较高，但每个区域的 GABA 变化在年龄方面都有不同的模式。我们还报告了同一队列的结构磁共振成像（MRI）与年龄匹配对照组的结果。我们一致观察到苍白球和小脑齿状核的信号高信号。
