Newcastle Laboratories

Alpha amino adipidic semialdehyde

Clinical Background:

α-amino adipic semialdehyde (αAASA) is increased in α-amino adipic semialdehyde dehydrogenase (antiquitin) deficiency; a disorder of lysine metabolism which results in pyridoxine-dependent epilepsy...

α-amino adipic semialdehyde (αAASA) is increased in α-amino adipic semialdehyde dehydrogenase (antiquitin) deficiency; a disorder of lysine metabolism which results in pyridoxine-dependent epilepsy.

The test is indicated in the investigation of a metabolic cause of seizures.

αAASA is not affected by treatment with pyridoxine (vitamin B6).

αAASA is also increased in molybdenum co-factor deficiency and isolated sulphite oxidase deficiency.

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Test Details

  • Discipline:

    Biochemistry

    Biochemistry

  • Specimen Container Adult:

    Random urine - ideally first morning sample

    Random urine - ideally first morning sample

  • Specimen Container Paediatric:

    Random urine - ideally first morning sample

    Random urine - ideally first morning sample

  • Minimum Volume Adult:

    2 mL

    2 mL

  • Minimum Volume Paediatric:

    2 mL

    2 mL

  • Special Requirement:

    Freeze as soon as possible, and store at -20°C 

    Freeze as soon as possible, and store at -20°C 

  • Transport Requirements:

    Ward: send to laboratory at ambient temperature

    External laboratories: send frozen to RVI

    Ward: send to laboratory at ambient temperature

    External laboratories: send frozen to RVI

  • Routine Contact Name:

    RVI: Duty Biochemist

  • Routine Telephone:

    Freeman: 0191 244 8889

    RVI: 0191 282 9719

    Freeman: 0191 244 8889

    RVI: 0191 282 9719

  • Routine Email:

    - For external users: TNU-Tr.duty.biochemist@nhs.net

    - For Trust users: DutyBiochemist@nuth.nhs.uk

  • Specialist Test:

    Yes

    Yes

  • Specialist Contact Name:

    Metabolic Clinical Scientist

    Metabolic Clinical Scientist

  • Specialist Telephone:

    0191 282 9685 (Consultant Clinical Scientist)

    0191 282 0334 (Metabolic Laboratory)

    0191 282 9685 (Consultant Clinical Scientist)

    0191 282 0334 (Metabolic Laboratory)

  • Specialist Email:

Availability:

Sample sent to an external laboratory for analysis

Turn Around:

6-8 weeks

Send To:

Department of Blood Sciences

Level 3
Leazes Wing
Royal Victoria Infirmary
Queen Victoria Road
Newcastle upon Tyne
NE1 4LP

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