Alpha Amino Adipic Semialdehyde

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Urine Alpha Amino Adipic Semialdehyde(AASA)

Neonatal epileptic seizures (usually with burst-suppression) and any unexplained refractory epilepsy up to the age of 2 years at onset

increased urinary AASA Supports a diagnosis of pyridoxine-dependent seizures (PDS) and folinic acid-responsive seizures (FRS) due to α-AASA-dehydrogenase (antiquin) deficiency^[1]
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 ALDH7A1 gene.
urinary excretion of α-AASA is also increased in molybdenum cofactor and sulfite oxidase deficiencies^[2]
Biochemical testing should be done prior to gene sequencing, and can be done regardless of pyridoxine therapy

1. ^a short:17560822

2. ^a short:23147983

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