Magnetic Resonance Imaging (MRI) and Spectroscopy in Succinic Semialdehyde Dehydrogenase Deficiency.
GABA
MEGAPRESS
MRI
SSADH
spectroscopy
Journal
Journal of child neurology
ISSN: 1708-8283
Titre abrégé: J Child Neurol
Pays: United States
ID NLM: 8606714
Informations de publication
Date de publication:
11 2021
11 2021
Historique:
pubmed:
10
2
2021
medline:
15
3
2022
entrez:
9
2
2021
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 33557675
doi: 10.1177/0883073821991295
pmc: PMC8349937
mid: NIHMS1662630
doi:
Substances chimiques
Succinate-Semialdehyde Dehydrogenase
EC 1.2.1.24
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
1162-1168Subventions
Organisme : NICHD NIH HHS
ID : R01 HD091142
Pays : United States
Organisme : NICHD NIH HHS
ID : U54 HD090255
Pays : United States
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