Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism

E. E. Jansen, K. R. Vogel, G. S. Salomons, P. L. Pearl, Jean-Baptiste Roullet, K. M. Gibson

Research output: Contribution to journalArticle

7 Scopus citations


We hypothesized that blood levels of γ-aminobutyric acid (GABA) and γ-hydroxybutyric acid (GHB), biomarkers of succinic semialdehyde dehydrogenase deficiency (SSADHD), would correlate with age. GABA and GHB were quantified in plasma and red blood cells (RBCs) from 18 patients (age range 5–41 years; median 8). Both metabolites negatively correlated with age (P < 0.05). Plasma and RBC GHB declined with age, reaching a nadir and approximate steady state by 10 years. Declining plasma GABA achieved this approximate steady state at 30–40 years of age. These biomarker relationships may reflect further GABA- and GHB-ergic neurotransmission imbalances that correlate with the onset of adolescent/adulthood neuropsychiatric morbidity and epilepsy in SSADHD.

Original languageEnglish (US)
Pages (from-to)795-800
Number of pages6
JournalJournal of Inherited Metabolic Disease
Issue number6
StatePublished - Nov 1 2016
Externally publishedYes


ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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