Alpha Aminoadipic Semialdehyde (Urine)

Urine

1 mL

0.5 mL

Collection cup

Collect entire sample into a single sterile cup

Freeze as soon as possible after collection; Ship within 24 hours. Ship samples priority overnight on 3-4 lbs of dry ice. Sample must arrive in our lab Monday - Saturday. We do NOT accept Sunday or holiday deliveries.

Room Temperature: Not stable; Refrigerated: Not stable; Frozen: Indefinitely; Freeze/Thaw: None

Thawed sample

Urine Alpha aminoadipic semialdehyde is useful for diagnosing pyridoxine-dependent seizures (PDS) and folinic acid-responsive seizures (FRS). Elevation of alpha aminoadipic semialdehyde can also occur in molybdenum cofactor deficiency. Urine Alpha aminoadipic semialdehyde may also be used for assessment of Variants of Uncertain Significance (VUS) identified during genetic testing (e.g. Next Generation Sequencing or Capillary Sequencing Testing). CLINICAL Pyridoxine dependent seizures is a genetic disorder characterized by seizures in neonates or infants up to 3 years of age, which in general,respond to a pharmacologic dose of pyridoxine (vitamin B6). Alpha-aminoadipic semialdehyde dehydrogenase (antiquin) deficiency is the underlying defect. Piperideine-6-Carboxylate (P6C) is the cyclic isomer of alpha-aminoadipic semialdehyde (AASA) and the equilibrium between P6C and Alpha aminoadipic semialdehyde is pH dependent. P6P reacts with pyridoxal 5'-phosphate and leads to a deficiency of this cofactor. Folinic responsive seizures and PDS are allelic, and caused by mutations in the ALDH7A1 gene. Biochemical testing should be done prior to gene sequencing, and can be done regardless of pyridoxine therapy.

LC/MS/MS