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A Novel Mutation of ALDH5A1 Gene Associated With Succinic Semialdehyde Dehydrogenase Deficiency

✍ Scribed by Lin, C.-Y.; Weng, W.-C.; Lee, W.-T.


Book ID
126615330
Publisher
SAGE Publications
Year
2014
Tongue
English
Weight
182 KB
Volume
30
Category
Article
ISSN
0883-0738

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Succinate semialdehyde dehydrogenase (SSADH; ALDH5A1) deficiency, a rare metabolic disorder that disrupts the normal degradation of GABA, gives rise to a highly heterogeneous neurological phenotype ranging from mild to very severe. The nature of the mutation has so far been reported in patients from