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Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism
Author(s) -
Jansen E. E.,
Vogel K. R.,
Salomons G. S.,
Pearl P. L.,
Roullet J.B.,
Gibson K. M.
Publication year - 2016
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-016-9980-7
Subject(s) - endocrinology , medicine , biomarker , epilepsy , metabolism , gamma aminobutyric acid , age of onset , biology , biochemistry , disease , receptor , neuroscience
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.