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
. 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]
[PMID: 17560822] [DOI: 10.1016/j.ymgme.2007.04.016]
2.
a
. 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]
[PMID: 23147983] [DOI: 10.1542/peds.2012-1094]
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