Metabolomics Profile in ABAT Deficiency Pre- and Post-treatment.
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ABSTRACT:
SUBMITTER: Koenig MK
PROVIDER: S-EPMC6323032 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Publications
Metabolomics Profile in ABAT Deficiency Pre- and Post-treatment.
Koenig Mary Kay MK Bonnen Penelope E PE
JIMD reports 20180227
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 ...[more]
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