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


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
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

1162-1168

Subventions

Organisme : NICHD NIH HHS
ID : R01 HD091142
Pays : United States
Organisme : NICHD NIH HHS
ID : U54 HD090255
Pays : United States

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Auteurs

Onur Afacan (O)

Department of Radiology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

Edward Yang (E)

Department of Radiology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

Alexander P Lin (AP)

Department of Radiology, Brigham and Women's Hospital, Boston, MA, USA.

Eduardo Coello (E)

Department of Radiology, Brigham and Women's Hospital, Boston, MA, USA.

Melissa L DiBacco (ML)

Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

Phillip L Pearl (PL)

Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

Simon K Warfield (SK)

Department of Radiology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

Ssadh Deficiency Investigators Consortium (SDI)

Contributing authors and affiliations are listed at the end of the article.

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Classifications MeSH