Succinic Semialdehyde Dehydrogenase Deficiency : Three Sibling in A Family (Case Report)
Journal Title: Journal of Neurological Sciences-Turkish - Year 2006, Vol 23, Issue 2
Abstract
Succinic semialdehyde dehydrogenase enzyme (SSADH) deficiency is a rare autosomal disorder involving the catabolism of the neurotransmitter γ-amino butyric acid (GABA). In the absence of SSADH, GABA is converted to 4-hydroxybutyrate. 4-hydroxybutyrate, which is regarded as a biochemical hallmark, accumulating in serum, urine and cerebrospinal fluid. We reported three brothers whose parents were second degree relatives. Patients psychomotor development were slow and they had severe language and intellectual retardation. All were detected to have 4-hydroxy butyric aciduria. All revealed bilateral hyperintensities globus pallidus on Cranial Magnetic Imaging (MRI). Besides two of them had hyperintensities on dentate nuclei on T2 weighted images. The patient were started on low dose vigabatrin treatment. We concluded that urinary organic acid analysis is necessary for the diagnosis of patients with unexplained psychomotor and language retardation.
Authors and Affiliations
Cengiz DAYAN, Mustafa ULKER, Yasemin AKGUN, Sefer GUNAYDIN, Turan ATAY, Baki ARPACI
Keywords
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