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, J-B Roullet, K M Gibson

Journal: Journal of inherited metabolic disease 2017;39(6):795-800

PMID: 27686230

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Abstract

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.

Address: Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Neuroscience Campus, Amsterdam, The Netherlands.; Division of Experimental and Systems Pharmacology, College of Pharmacy, Washington State University, Pharmaceutical and Biomedical Sciences Building Room 347, 412 E. Spokane Falls Blvd, Spokane, WA, 99204, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Division of Experimental and Systems Pharmacology, College of Pharmacy, Washington State University, Pharmaceutical and Biomedical Sciences Building Room 347, 412 E. Spokane Falls Blvd, Spokane, WA, 99204, USA. [email protected].

DOI: 10.1007/s10545-016-9980-7

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MeSH Terms: Adolescent, Adult, Amino Acid Metabolism, Inborn Errors, Biomarkers, Child, Child, Preschool, Developmental Disabilities, Epilepsy, Female, Humans, Hydroxybutyrates, Male, Succinate-Semialdehyde Dehydrogenase, Synaptic Transmission, Young Adult, gamma-Aminobutyric Acid