Bekri S, Fossoud C, Plaza G, Guenne A, Salomons G S, Jakobs C, Van Obberghen E
Department of Biochemistry, Centre Hospitalier Universitaire de Nice, France.
Mol Genet Metab. 2004 Apr;81(4):347-51. doi: 10.1016/j.ymgme.2004.01.012.
Succinic semialdehyde dehydrogenase (SSADH) deficiency has predominantly neurological consequences, affecting psychomotor, speech and language development. Recently, two clinical reviews summarized the features of this disease and their relative frequency [Neurology 60 (2003) 1413; Ann. Neurol. 54 (2003) S73]. The molecular genetics of SSADH deficiency is still being explored. We describe the molecular basis of this defect in a Tunisian female child presenting with a mild phenotype. A small scale deletion in exon 10 of the gene led to a frameshift that predicts premature termination of the resulting putative protein. The parents were shown to be heterozygotes for this deletion, supporting its causative role.
