Journal
JOURNAL OF INHERITED METABOLIC DISEASE
Volume 39, Issue 6, Pages 795-800Publisher
SPRINGER
DOI: 10.1007/s10545-016-9980-7
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Funding
- NINDS NIH HHS [R01 NS082286] Funding Source: Medline
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We hypothesized that blood levels of gamma-aminobutyric acid (GABA) and gamma-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.
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