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| content:α-aasa [2020/02/16 17:26] – [Interpretation] icna | content:α-aasa [2020/02/16 17:28] – [Interpretation] icna | ||
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| 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 ==== | ==== Interpretation ==== | ||
| - | Supports a diagnosis of [[pyridoxine-dependent epilepsy]] (PDE) due to α-AASA-dehydrogenase deficiency | + | Supports a diagnosis of [[pyridoxine-dependent epilepsy]] (PDE) due to α-AASA-dehydrogenase 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. | ||