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

被引：17

作者：

Jansen, E. E. ^{[1
]}

Vogel, K. R. ^{[2
]}

Salomons, G. S. ^{[2
]}

Pearl, P. L. ^{[3
]}

Roullet, J. -B. ^{[2
]}

Gibson, K. M. ^{[2
]}

机构：

[1] Vrije Univ Amsterdam Med Ctr, Dept Clin Chem, Metab Unit, Neurosci Campus, Amsterdam, Netherlands

[2] Washington State Univ, Div Expt & Syst Pharmacol, Coll Pharm, Pharmaceut & Biomed Sci Bldg Room 347, Spokane, WA 99204 USA

[3] Boston Childrens Hosp, Dept Neurol, Boston, MA USA

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 2016年 / 39卷 / 06期

关键词：

GAMMA-HYDROXYBUTYRIC ACID; ISOTOPE-DILUTION ANALYSIS; AMINOBUTYRIC-ACID; PATIENT; BRAIN;

D O I：

10.1007/s10545-016-9980-7

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：795 / 800

页数：6

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