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content:α-aasa [2020/02/16 17:35]
icna
content:α-aasa [2020/02/16 17:36] (current)
icna [Notes]
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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
 ==== Notes ==== ==== Notes ====
-  * 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}})]+  * 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.   * 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]].   * Folinic responsive seizures and PDS are allelic, and caused by mutations in the [[https://​ghr.nlm.nih.gov/​gene/​ALDH7A1|ALDH7A1 gene]].
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