Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UNIPROT:P80404 (
GABA transaminase
)
786
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Metabolomic profiling is an emerging technology in the clinical setting with immediate diagnostic potential for the population of patients with
Inborn Errors of Metabolism
. We present the metabolomics profile of two
ABAT
deficiency patients both pre- and posttreatment with flumazenil.
ABAT
deficiency, also known as GABA-transaminase deficiency, is caused by recessive mutations in the gene
ABAT
and leads to encephalopathy of variable severity with hypersomnolence, hypotonia, hypomyelination, and seizures. Through metabolomics screening of multiple patient tissues, we identify 2-pyrrolidinone as a biomarker for GABA that is informative in plasma, urine, and CSF. These data will enable noninvasive diagnostic testing for the population of patients with disorders of GABA metabolism.
...
PMID:Metabolomics Profile in ABAT Deficiency Pre- and Post-treatment. 2948 Mar 52
