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In rare diseases, the advent of potential therapies spurs early diagnosis, natural history studies, and the creation of patient registries. Succinic semialdehyde dehydrogenase (SSADH) deficiency is a relatively recently described autosomal recessive organic aciduria that is due to an inborn error of the second and final step of γ-aminobutyric acid metabolism.1 The presence of γ-hydroxybutyric acid in the urine is suggestive of a diagnosis of SSADH deficiency, which may then be confirmed either by direct measurement of the activity of the enzyme or by sequencing of the ALDH5A1 gene.2,3
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See page 861
- © 2015 American Academy of Neurology
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