Frontiers | 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis
www.frontiersin.org
ABA-transaminase deficiency is a rare neurodevelopmental and neurometabolic disorder caused by mutations in ABAT and resulting in accumulation of GABA in the cerebrospinal fluid Using an untargeted metabolomics platform, we analyzed EDTA plasma, urine, and CSF specimens from four individuals with GA
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- ABA-transaminase deficiency is a rare neurodevelopmental and neurometabolic disorder caused by mutations in ABAT and resulting in accumulation of GABA in the cerebrospinal fluid
- Using an untargeted metabolomics platform, we analyzed EDTA plasma, urine, and CSF specimens from four individuals with GABA-transaminase deficiency to identify biomarkers by comparing the biochemical profile of individual patient samples to a pediatric-centric population cohort.
- rare genetic disorder that disrupts the degradation of GABA to succinic semialdehyde
- GABA metabolism to succinic semialdehyde helps to regulate its levels and neurotransmitter activity.
- uccinate can enter the tricarboxylic acid cycle for NADH and FADH2 production
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Mitochondrial
Multi-Omics
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