Alpha Amino Adipic Semialdehyde (Random Urine)

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)

N/A

Specimen Container - Adult

• Plain Universal / Yellow Top Monovette;

Specimen Container - Paediatric

• Plain Universal;

Analytes

• N/A;

Part of a test profile?

No

Volume (min) of sample to be sent to laboratory

4ml

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

N/A

UKAS accredited test?

No

Comments

N/A

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