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 sh...

Full description

Saved in:
Bibliographic Details
Published in:JIMD Reports, Volume 36 Volume 36, 2017-01, Vol.36, p.93-98
Main Authors: Johansen, S. S., Wang, X., Sejer Pedersen, D., Pearl, P. L., Roullet, J.-B., Ainslie, G. R., Vogel, K. R., Gibson, K. M.
Format: Article
Language:English
Subjects:
GABA metabolism
Gamma-hydroxybutyrate (GHB)
Hair analysis
Succinic semialdehyde dehydrogenase (SSADH)
Succinic semialdehyde dehydrogenase deficiency (SSADHD)
Tandem mass spectrometry
Citations: Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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).
ISSN:2192-8304
2192-8312
DOI:10.1007/8904_2017_3