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Alpha Amino Adipic Semialdehyde (Random Urine)

Alias: AASA

Discipline: Clinical Chemistry

Test information: Pyridoxine-dependent epilepsy is an autosomal recessive disease caused by mutations in the alpha-aminoadipic semialdehyde (AASA) dehydrogenase gene on chromosome 5q31. Deficiency of the enzyme leads to the accumulation of AASA and piperideine- 6-carboxylate (P6C), elevated levels of which can be detected in urine, plasma, and CSF of affected patients. Patients usually present with neonatal seizures that are unresponsive to conventional anti-convulsant therapy.

Specimen Type(s)
  • Urine;
Other Acceptable Specimen Type(s)
Specimen Container - Adult
  • Plain Universal / Yellow Top Monovette;
Specimen Container - Paediatric
  • Plain Universal;
  • N/A;
Part of a test profile?
Volume (min) of sample to be sent to laboratory
Patient Preparation, Sample Handling and Transport
Please ensure a concentrated urine is taken. IMMEDIATELY hand deliver sample to the laboratory.
Maximum add on time
No add-ons.
Units and Reference Ranges / Interpretation
Please see the report.
UKAS number
UKAS accredited test?

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Last updated: 25-05-2023