Succinic semialdehyde dehydrogenase deficiency: a metabolic and genomic approach to diagnosis

Succinic semialdehyde dehydrogenase deficiency: a metabolic and genomic approach to diagnosis

Genomic sequencing offers an untargeted, data-driven approach to genetic diagnosis; however, variants of uncertain significance often hinder the diagnostic process. The discovery of rare genomic variants without previously known functional evidence of pathogenicity often results in variants being ov...

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Bibliographic Details
Main Authors: Kevin E. Glinton, Charul Gijavanekar, Abbhirami Rajagopal, Laura P. Mackay, Kirt A. Martin, Phillip L. Pearl, K. Michael Gibson, Theresa A. Wilson, V. Reid Sutton, Sarah H. Elsea
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-06-01
Series:Frontiers in Genetics
Subjects:
SSADHD (succinic semialdehyde dehydrogenase deficiency)
succinic semialdehyde dehydrogenase
GABA catabolism
ALDH5A1
GHB (4-hydroxybutyric acid)
2-pyrrolidinone
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2024.1405468/full

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https://www.frontiersin.org/articles/10.3389/fgene.2024.1405468/full

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