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====== Alpha Amino Adipic Semialdehyde ====== | ====== Alpha Amino Adipic Semialdehyde ====== | ||
{{tag> | {{tag> | ||
+ | ==== Labtests ==== | ||
+ | Urine Alpha Amino Adipic Semialdehyde(AASA) | ||
==== Indications ==== | ==== Indications ==== | ||
Neonatal epileptic seizures (usually with burst-suppression) and any unexplained refractory epilepsy up to the age of 2 years at onset | Neonatal epileptic seizures (usually with burst-suppression) and any unexplained refractory epilepsy up to the age of 2 years at onset | ||
==== Notes ==== | ==== Notes ==== | ||
- | * Supports a diagnosis of [[pyridoxine-dependent seizures]] (PDS) and [[folinic acid-responsive seizures]] (FRS) due to α-AASA-dehydrogenase (antiquin) deficiency[(: | + | * increased urinary AASA Supports a diagnosis of [[pyridoxine-dependent seizures]] (PDS) and [[folinic acid-responsive seizures]] (FRS) due to α-AASA-dehydrogenase (antiquin) deficiency[(: |
* 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. | * 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. | ||
- | * urinary excretion of α-AASA is also increased in [[molybdenum cofactor]] and [[sulfite oxidase]] deficiencies[(: | ||
* Folinic responsive seizures and PDS are allelic, and caused by mutations in the [[https:// | * Folinic responsive seizures and PDS are allelic, and caused by mutations in the [[https:// | ||
+ | * urinary excretion of α-AASA is also increased in [[molybdenum cofactor]] and [[sulfite oxidase]] deficiencies[(: | ||
* Biochemical testing should be done prior to gene sequencing, and can be done regardless of pyridoxine therapy | * Biochemical testing should be done prior to gene sequencing, and can be done regardless of pyridoxine therapy | ||
==== References ==== | ==== References ==== | ||
~~REFNOTES~~ | ~~REFNOTES~~ |