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: Chun-Yen Lin, Wen-Chin Weng, Wang-Tso Lee
• Journal: Journal of child neurology (J Child Neurol) Vol. 30 Issue 4 Pg. 486-9 (Mar 2015) ISSN: 1708-8283 [Electronic] United States
• PMID: 25246302 (Publication Type: Case Reports, Journal Article)
• Copyright: © The Author(s) 2014.

Chemical References

• gamma-Aminobutyric Acid
• ALDH5A1 protein, human
• Succinate-Semialdehyde Dehydrogenase

Topics

• Amino Acid Metabolism, Inborn Errors (genetics, pathology, physiopathology, therapy)
• Brain (pathology, physiopathology)
• Developmental Disabilities
• Diagnosis, Differential
• Humans
• Infant
• Magnetic Resonance Imaging
• Male
• Mutation
• Seizures (pathology, physiopathology)
• Succinate-Semialdehyde Dehydrogenase (deficiency, genetics)
• gamma-Aminobutyric Acid (urine)