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content:α-aasa [2020/02/16 17:25] – created icna | content:α-aasa [2020/02/16 17:26] – [Interpretation] icna | ||
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* 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[(: |
==== References ==== | ==== References ==== | ||
~~REFNOTES~~ | ~~REFNOTES~~ |