Article
Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency.
Human mutation - 1 Dec 2003
Akaboshi Shinjiro, Hogema Boris M, Novelletto Andrea, Malaspina Patrizia, Salomons Gajja S, Maropoulos George D, Jakobs Cornelis, Grompe Markus, Gibson K Michael
Abstract excerpt
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 f...
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