[Identification of ALDH5A1 gene mutations in a Chinese family affected with succinic semialdehyde dehydrogenase deficiency]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Feb 10;34(1):6-9. doi: 10.3760/cma.j.issn.1003-9406.2017.01.002.
[Article in Chinese]


Objective: To detect potential mutation in a Chinese family affected with succinic semialdehyde dehydrogenase deficiency.

Methods: Genomic DNA was extracted from the peripheral blood samples of the proband, her family members and 100 healthy controls. All exons and flanking intronic regions of the ALDH5A1 gene were amplified by PCR and subjected to direct sequencing.

Results: The proband was found to have compound heterozygous mutations of the ALDH5A1 gene, namely c.398_399delAA (p.N134X) and c.638G>T (p.R213L), for which her parents were both heterozygous carriers. The same mutations were not found among the 100 healthy controls.

Conclusion: The novel mutations of the ALDH5A1 gene probably underlie the pathogenesis of the disease in the infant, which also enriched the mutation spectrum of the ALDH5A1 gene.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / ethnology
  • Amino Acid Metabolism, Inborn Errors / genetics*
  • Amino Acid Sequence
  • Asian Continental Ancestry Group / genetics
  • Base Sequence
  • China
  • DNA Mutational Analysis / methods
  • Developmental Disabilities / ethnology
  • Developmental Disabilities / genetics*
  • Exons / genetics
  • Family Health
  • Female
  • Heterozygote
  • Humans
  • Infant
  • Introns / genetics
  • Male
  • Mutation*
  • Sequence Homology, Amino Acid
  • Succinate-Semialdehyde Dehydrogenase / deficiency*
  • Succinate-Semialdehyde Dehydrogenase / genetics


  • ALDH5A1 protein, human
  • Succinate-Semialdehyde Dehydrogenase

Supplementary concepts

  • succinic semialdehyde dehydrogenase deficiency