[P1-179] Clinical and New ALDHSA1 Gene Mutation Analysis of a Case of the Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency
[Introduction] To analyze the clinical features and ALDHSA1 gene mutations in proband’s family of succinic semialdehyde dehydrogenase（SSADH） deficiency. [Methodology] We analyzed the clinical manifestations, electrophysiological characteristics, neuroimaging and ALDHSA1 gene mutation of a SSADH deficiency patient with abnormal behavior and seizures. [Results] The patient presented involuntary movement and recurrent seizures for about thirteen months after birth. MRI scan of brain showed diffuse abnormal signal in bilateral cerebral hemispheres, brainstem nuclei, basal ganglia and thalamus.After one month,it demonstrated encephalatrophy, as shown in the picture1.The analysis of Urine gaschromatographic mass spectrometry showed hydroxybutyric acid had increased. Several anti-epiletic drugs had not any effect on this condition. Two new compound heterozygous mutations of ALDHSA1 gene were found, c.800T>G (p.Val267Gly) and c.1480G>A (p.Glu494Lys) missense mutations. His father carried with the missense mutation c.800T>G (p.Val267Gly) while his mother carried with the missense mutation c.1480G>A (p.Glu494Lys). [Conclusions] This gene mutation has not been reported, which will supplement the gene mutation data of this disease in Chinese patients and provide a reference for genetic diagnosis and genetic counseling.