A novel mutation of aldh5a1 gene associated with succinic semialdehyde dehydrogenase deficiency

Lin C.-Y.WEN-CHIN WENGWANG-TSO LEE2020-12-182020-12-1820150883-0738https://www.scopus.com/inward/record.uri?eid=2-s2.0-84923358826&doi=10.1177%2f0883073814544365&partnerID=40&md5=df22b6bac3a46a5faa6e2eca04c6823fhttps://scholars.lib.ntu.edu.tw/handle/123456789/527381Succinic semialdehyde dehydrogenase deficiency is a rare autosomal recessive metabolic disorder affecting -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 -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. ? The Author(s) 2014.[SDGs]SDG34 hydroxybutyric acid; clonazepam; etiracetam; oxcarbazepine; succinate semialdehyde dehydrogenase; vigabatrin; 4 aminobutyric acid; ALDH5A1 protein, human; succinate semialdehyde dehydrogenase; ALDH5A1 gene; Article; atelectasis; basal ganglion; brain atrophy; case report; child; choreoathetosis; developmental disorder; diffusion weighted imaging; disease course; disease severity; electroencephalogram; encephalomalacia; enzyme deficiency; epileptic discharge; focal epilepsy; gene; gene mutation; globus pallidus; hemisphere; heterozygote; human; infant; involuntary movement; male; mutational analysis; phenotype; pneumonia; positive end expiratory pressure; preschool child; priority journal; putamen; school child; succinate semialdehyde dehydrogenase deficiency; urinalysis; Amino Acid Metabolism, Inborn Errors; brain; deficiency; differential diagnosis; genetics; mutation; nuclear magnetic resonance imaging; pathology; pathophysiology; seizure; urine; Amino Acid Metabolism, Inborn Errors; Brain; Diagnosis, Differential; gamma-Aminobutyric Acid; Humans; Infant; Magnetic Resonance Imaging; Male; Mutation; Seizures; Succinate-Semialdehyde DehydrogenaseA novel mutation of aldh5a1 gene associated with succinic semialdehyde dehydrogenase deficiencyjournal article10.1177/0883073814544365252463022-s2.0-84923358826