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content:α-aasa [2020/02/16 17:28] – [Interpretation] icna | content:α-aasa [2020/02/16 17:33] – [Interpretation] icna | ||
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==== 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 | ||
- | ==== Interpretation | + | ==== Notes ==== |
- | Supports a diagnosis of [[pyridoxine-dependent | + | |
* 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[(: | * 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:// | ||
+ | * Biochemical testing should be done prior to gene sequencing, and can be done regardless of pyridoxine therapy | ||
==== References ==== | ==== References ==== | ||
~~REFNOTES~~ | ~~REFNOTES~~ |