Show pageDiscussionOld revisionsBacklinksCite current pageBack to top This page is read only. You can view the source, but not change it. Ask your administrator if you think this is wrong. ====== 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~~ content/α-aasa.txt Last modified: 2022/04/30 11:54by administrator@icnapedia.org Log In