Alpha Amino Adipic Semialdehyde
- - Labtests
  - Indications
  - Notes
  - References
Discussion

Alpha Amino Adipic Semialdehyde

Labtests

Urine Alpha Amino Adipic Semialdehyde(AASA)

Indications

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

Notes

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

References

1. ^a Struys EA, Jakobs C. Alpha-aminoadipic semialdehyde is the biomarker for pyridoxine dependent epilepsy caused by alpha-aminoadipic semialdehyde dehydrogenase deficiency. Mol Genet Metab. 2007 Aug;91(4):405. doi: 10.1016/j.ymgme.2007.04.016. Epub 2007 Jun 8.
[PMID: 17560822] [DOI: 10.1016/j.ymgme.2007.04.016]

2. ^a Struys EA, Nota B, Bakkali A, Al Shahwan S, Salomons GS, Tabarki B. Pyridoxine-dependent epilepsy with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency. Pediatrics. 2012 Dec;130(6):e1716-9. doi: 10.1542/peds.2012-1094. Epub 2012 Nov 12.
[PMID: 23147983] [DOI: 10.1542/peds.2012-1094]

Table of Contents

Alpha Amino Adipic Semialdehyde

Labtests

Indications

Notes

References