Magnetic Resonance Imaging (MRI) and Spectroscopy in Succinic Semialdehyde Dehydrogenase Deficiency.

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  • Additional Information
    • Source:
      Publisher: Sage Country of Publication: United States NLM ID: 8606714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1708-8283 (Electronic) Linking ISSN: 08830738 NLM ISO Abbreviation: J Child Neurol Subsets: MEDLINE
    • Publication Information:
      Publication: Thousand Oaks, CA : Sage
      Original Publication: Littleton, MA : PSG Pub. Co., c1986-
    • Subject Terms:
      Amino Acid Metabolism, Inborn Errors/*diagnosis ; Brain/*diagnostic imaging ; Brain Mapping/*methods ; Developmental Disabilities/*diagnosis ; Magnetic Resonance Imaging/*methods ; Succinate-Semialdehyde Dehydrogenase/*deficiency; Amino Acid Metabolism, Inborn Errors/diagnostic imaging ; Child ; Cohort Studies ; Developmental Disabilities/diagnostic imaging ; Humans ; Spectrum Analysis/methods
    • Abstract:
      Succinic semialdehyde dehydrogenase (SSADH) deficiency is an autosomal recessive disorder of γ-aminobutyric acid (GABA) degradation, resulting in elevations of brain GABA and γ-hydroxybutyric acid (GHB). Previous magnetic resonance (MR) spectroscopy studies have shown increased levels of Glx in SSADH deficiency patients. Here in this work, we measure brain GABA in a large cohort of SSADH deficiency patients using advanced MR spectroscopy techniques that allow separation of GABA from overlapping metabolite peaks. We observed significant increases in GABA concentrations in SSADH deficiency patients for all 3 brain regions that were evaluated. Although GABA levels were higher in all 3 regions, each region had different patterns in terms of GABA changes with respect to age. We also report results from structural magnetic resonance imaging (MRI) of the same cohort compared with age-matched controls. We consistently observed signal hyperintensities in globus pallidus and cerebellar dentate nucleus.
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    • Grant Information:
      R01 HD091142 United States HD NICHD NIH HHS; U54 HD090255 United States HD NICHD NIH HHS
    • Contributed Indexing:
      Keywords: GABA; MEGAPRESS; MRI; SSADH; spectroscopy
    • Accession Number:
      EC 1.2.1.24 (Succinate-Semialdehyde Dehydrogenase)
    • Subject Terms:
      succinic semialdehyde dehydrogenase deficiency
    • Publication Date:
      Date Created: 20210209 Date Completed: 20220314 Latest Revision: 20220314
    • Publication Date:
      20231215
    • Accession Number:
      PMC8349937
    • Accession Number:
      10.1177/0883073821991295
    • Accession Number:
      33557675