Alpha Amino Adipic Semialdehyde

Urine Alpha Amino Adipic Semialdehyde(AASA)

Neonatal epileptic seizures (usually with burst-suppression) and any unexplained refractory epilepsy up to the age of 2 years at onset

  • increased urinary AASA supports a diagnosis of pyridoxine-dependent seizures (PDS) and folinic acid-responsive seizures (FRS) due to α-AASA-dehydrogenase (antiquin) deficiency[1]
  • α-Amino adipic semialdehyde (α-AASA) accumulates in body fluids from patients with pyridoxine-dependent epilepsy because of mutations in antiquitin (ALDH7A1) and serves as the biomarker for this condition.
  • Folinic responsive seizures and PDS are allelic, and caused by mutations in the ALDH7A1 gene.
  • urinary excretion of α-AASA is also increased in molybdenum cofactor and sulfite oxidase deficiencies[2]
  • Biochemical testing should be done prior to gene sequencing, and can be done regardless of pyridoxine therapy

1. a Struys Eduard A et al. Mol Genet Metab. 2007 Aug;91(4):405. PMID : 17560822
2. a Struys Eduard Alexander et al. Pediatrics. 2012 Dec;130(6):e1716-9. PMID : 23147983
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