title: [Succinic semialdehyde dehydrogenase deficiency].
abstract: Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal recessive disorder. This paper reports three cases of SSADH deficiency in infants. The infants developed the symptoms including developmental delay, intellectual disability, hypotonia, hyporeflexia and seizures. The electroencephalogram (EEG) showed background slowing and focal spike discharges in all of 3 patients. Head magnetic resonance imaging (MRI) demonstrated abnormalities in 2 patients, including basal ganglia damage and increased T2-weighted signal in bilateral cerebral peduncles. Urinary organic acid analysis with gas chromatography-mass spectrometry (GC-MS) revealed increased levels of 4-hydroxybutyrate (GHB) in 3 patients. SSADH deficiency was definitely diagnosed based on the clinical manifestations and the results of urinary organic acid analysis in the 3 children. It was concluded that early urine organic acid analysis is essential for children presenting with mental retardation, neuropsychiatric disturbance or epilepsy of unknown etiology.
authors.affiliation: Department of Pediatrics, Xiangya Hospital, Central South University, Changsha, China.
authors.forename: Xiao-Lu
authors.initials: XL
authors.lastname: Deng
authors.forename: Fei
authors.initials: F
authors.lastname: Yin
authors.forename: Qiu-Lian
authors.initials: QL
authors.lastname: Xiang
authors.forename: Chen-Tao
authors.initials: CT
authors.lastname: Liu
authors.forename: Jing
authors.initials: J
authors.lastname: Peng
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000628:therapy; D002658:Developmental Disabilities; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D050644:Succinate-Semialdehyde Dehydrogenase / Q000172:deficiency
chemical_list: D050644:Succinate-Semialdehyde Dehydrogenase