Gamma-Hydroxybutyrate (GHB) Content in Hair Samples Correlates Negatively with Age in Succinic Semialdehyde Dehydrogenase Deficiency
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).
KeywordsGABA metabolism Gamma-hydroxybutyrate (GHB) Hair analysis Succinic semialdehyde dehydrogenase (SSADH) Succinic semialdehyde dehydrogenase deficiency (SSADHD) Tandem mass spectrometry
The authors gratefully acknowledge the patients and families who contributed hair samples for this study. The ongoing support of the SSADH association (www.ssadh.net) and Speragen, Inc., for longitudinal analyses of patient biological samples, is gratefully acknowledged.
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