title: A novel mutation of ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency.
abstract: Succinic semialdehyde dehydrogenase deficiency is a rare autosomal recessive metabolic disorder affecting γ-aminobutyric acid degradation. We described a boy with a severe phenotype of succinic semialdehyde dehydrogenase deficiency and novel mutations of ALDH5A1 gene. He was referred because of developmental delay, focal seizures, and choreoathetosis at 6 months of age. The diagnosis of succinic semialdehyde dehydrogenase deficiency was confirmed by increased level of γ-hydroxybutyric acid in urine and novel compound heterozygous mutations in the ALDH5A1 gene. His seizures were successfully controlled. However, the patient showed a slowly progressive clinical course with severe neurologic deficits. A magnetic resonance imaging (MRI) revealed abnormal high intensities in the putamen and globus pallidi on T2-weighted images when he was 6 months old, and more diffuse abnormal signal intensities over bilateral hemispheres were noted when he was 3 years old.
authors.affiliation: Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
authors.forename: Chun-Yen
authors.initials: CY
authors.lastname: Lin
authors.affiliation: Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan Clinical Center of Neuroscience and Behavior, National Taiwan University Hospital, Taipei, Taiwan.
authors.forename: Wen-Chin
authors.initials: WC
authors.lastname: Weng
authors.affiliation: Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan Clinical Center of Neuroscience and Behavior, National Taiwan University Hospital, Taipei, Taiwan leeped@hotmail.com.
authors.forename: Wang-Tso
authors.initials: WT
authors.lastname: Lee
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology / Q000628:therapy; D001921:Brain / Q000473:pathology / Q000503:physiopathology; D002658:Developmental Disabilities; D003937:Diagnosis, Differential; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D012640:Seizures / Q000473:pathology / Q000503:physiopathology; D050644:Succinate-Semialdehyde Dehydrogenase / Q000172:deficiency* / Q000235:genetics; D005680:gamma-Aminobutyric Acid / Q000652:urine
chemical_list: D005680:gamma-Aminobutyric Acid; C493643:ALDH5A1 protein, human; D050644:Succinate-Semialdehyde Dehydrogenase
keywords: dyskinesia; psychomotor retardation; succinic semialdehyde dehydrogenase deficiency