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A novel mutation of ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency.

Authors
  • Lin, Chun-Yen
  • Weng, Wen-Chin
  • Lee, Wang-Tso
Type
Published Article
Journal
Journal of Child Neurology
Publisher
SAGE Publications
Publication Date
Mar 01, 2015
Volume
30
Issue
4
Pages
486–489
Identifiers
DOI: 10.1177/0883073814544365
PMID: 25246302
Source
Medline
Keywords
License
Unknown

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.

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