Differences

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--- content:α-aasa [2020/02/16 17:28] – [Interpretation] icna
+++ content:α-aasa [2020/02/16 17:35] – icna
@@ Line 1: / Line 1: @@
 ====== 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
-==== Interpretation ====
+==== Notes ====
-Supports a diagnosis of [[pyridoxine-dependent epilepsy]] (PDE) due to α-AASA-dehydrogenase deficiency[(:cite:17560822>{{pubmed>short:17560822}})]
+  * 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>{{pubmed>short: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 >{{pubmed>short:23147983}})]
+  * Biochemical testing should be done prior to gene sequencing, and can be done regardless of pyridoxine therapy
 ==== References ====
 ~~REFNOTES~~