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

Research output: Contribution to journalArticleAcademicpeer-review

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.

Original languageEnglish
Pages (from-to)795-800
Number of pages6
JournalJournal of Inherited Metabolic Disease
Volume39
Issue number6
DOIs
Publication statusPublished - 1 Nov 2016

Cite this

@article{8f73e421636a4f47a2e3ddf955da5381,
title = "Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism",
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.",
author = "Jansen, {E. E.} and Vogel, {K. R.} and Salomons, {G. S.} and Pearl, {P. L.} and Roullet, {J. B.} and Gibson, {K. M.}",
year = "2016",
month = "11",
day = "1",
doi = "10.1007/s10545-016-9980-7",
language = "English",
volume = "39",
pages = "795--800",
journal = "Journal of Inherited Metabolic Disease",
issn = "0141-8955",
publisher = "Springer Netherlands",
number = "6",

}

Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism. / Jansen, E. E.; Vogel, K. R.; Salomons, G. S.; Pearl, P. L.; Roullet, J. B.; Gibson, K. M.

In: Journal of Inherited Metabolic Disease, Vol. 39, No. 6, 01.11.2016, p. 795-800.

Research output: Contribution to journalArticleAcademicpeer-review

TY - JOUR

T1 - Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism

AU - Jansen, E. E.

AU - Vogel, K. R.

AU - Salomons, G. S.

AU - Pearl, P. L.

AU - Roullet, J. B.

AU - Gibson, K. M.

PY - 2016/11/1

Y1 - 2016/11/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=84989171953&partnerID=8YFLogxK

U2 - 10.1007/s10545-016-9980-7

DO - 10.1007/s10545-016-9980-7

M3 - Article

VL - 39

SP - 795

EP - 800

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

SN - 0141-8955

IS - 6

ER -