====== Alpha Amino Adipic Semialdehyde ======
{{tag>labtests}}
==== 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[(:cite:17560822>{{pmid>long:17560822}})]
  * 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 [[https://ghr.nlm.nih.gov/gene/ALDH7A1|ALDH7A1 gene]].
  * urinary excretion of α-AASA is also increased in [[molybdenum cofactor]] and [[sulfite oxidase]] deficiencies[(:cite:23147983 >{{pmid>long:23147983}})]
  * Biochemical testing should be done prior to gene sequencing, and can be done regardless of pyridoxine therapy

==== References ====
~~REFNOTES~~