Succinic Semialdehyde Dehydrogenase Deficiency: Case Reports


Submitted : Revised : Accepted : Abstract Succinate-semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder of v-amino butiric acid catabolism with autosomal recessive inheritance. Accumulation of ghydroxybutyrate in urine and plasma is biochemically key finding. SSADH deficiency can be demonstrated by measuring level of SSADH enzyme in lymphocytes or leukocytes. In a child with mental retardation and speech disorder the isolated pallidal brain magnetic resonance pattern with absent white-matter changes should raise the suspicion of SSADH deficiency and prompt biochemical analysis of hydroxybutyrate.

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@inproceedings{Vurucu2008SuccinicSD, title={Succinic Semialdehyde Dehydrogenase Deficiency: Case Reports}, author={Sebahattin Vurucu and Murat Kocaoðlu and B{\"{u}lent {\"{U}nay and R{\'y}dvan Ak{\'y}n}, year={2008} }