Johansen S S, Wang X, Sejer Pedersen D, Pearl P L, Roullet J-B, Ainslie G R, Vogel K R, Gibson K M
Section of Forensic Chemistry, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Department of Drug Design and Pharmacology, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
JIMD Rep. 2017;36:93-98. doi: 10.1007/8904_2017_3. Epub 2017 Feb 18.
Gamma-hydroxybutyrate (GHB) is a drug of abuse, an approved therapeutic for narcolepsy, an agent employed for facilitation of sexual assault, as well as a biomarker of succinic semialdehyde dehydrogenase deficiency (SSADHD). Our laboratory seeks to identify surrogate biomarkers in SSADHD that can shed light on the developmental course of this neurometabolic disease. Since GHB may be quantified in hair as a potential surrogate to identify victims of drug-related assault, we have opted to examine its level in SSADHD. We quantified GHB in hair derived from ten patients with SSADHD, and documented a significant negative age correlation. These findings are consistent with recent results in patient biological fluids, including plasma and red blood cells. These findings may provide additional insight into the developmental course of SSADHD (Jansen et al., J Inherit Metab Dis 39:795-800, 2016).
γ-羟基丁酸（GHB）是一种滥用药物，一种已获批准用于治疗发作性睡病的药物，一种用于协助实施性侵犯的药剂，也是琥珀酸半醛脱氢酶缺乏症（SSADHD）的生物标志物。我们的实验室旨在识别SSADHD中的替代生物标志物，以阐明这种神经代谢疾病的发展过程。由于GHB可在毛发中进行定量分析，作为识别与药物相关袭击受害者的潜在替代指标，我们选择检测其在SSADHD中的水平。我们对10例SSADHD患者的毛发中的GHB进行了定量分析，并记录到其与年龄呈显著负相关。这些发现与近期在患者生物体液（包括血浆和红细胞）中的研究结果一致。这些发现可能为深入了解SSADHD的发展过程提供更多见解（扬森等人，《遗传代谢病杂志》39:795 - 800，2016年）。
