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Succinic semialdehyde dehydrogenase deficiency: clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation

Book ID
110888167
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
249 KB
Volume
69
Category
Article
ISSN
0009-9163

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Mutational spectrum of the succinate sem
Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency
✍ Shinjiro Akaboshi; Boris M. Hogema; Andrea Novelletto; Patrizia Malaspina; Gajja πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 218 KB

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