A novel ALDH5A1 mutation in a patient with succinic semialdehyde dehydrogenase deficiency

Pathology. 2012 Apr;44(3):280-2. doi: 10.1097/PAT.0b013e32835140c2.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Acids
  • Amino Acid Metabolism, Inborn Errors / genetics*
  • DNA Mutational Analysis
  • Developmental Disabilities
  • Homozygote
  • Humans
  • Infant
  • Male
  • Metabolism, Inborn Errors / diagnosis*
  • Metabolism, Inborn Errors / genetics
  • Metabolism, Inborn Errors / urine
  • Mutation*
  • Succinate-Semialdehyde Dehydrogenase / deficiency
  • Succinate-Semialdehyde Dehydrogenase / genetics*

Substances

  • Acids
  • ALDH5A1 protein, human
  • Succinate-Semialdehyde Dehydrogenase

Supplementary concepts

  • succinic semialdehyde dehydrogenase deficiency