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.
Test Details
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Discipline:
Biochemistry
Biochemistry
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Specimen Container Adult:
Random urine - ideally first morning sample
Random urine - ideally first morning sample
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Specimen Container Paediatric:
Random urine - ideally first morning sample
Random urine - ideally first morning sample
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Minimum Volume Adult:
2 mL
2 mL
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Minimum Volume Paediatric:
2 mL
2 mL
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Special Requirement:
Freeze as soon as possible, and store at -20°C
Freeze as soon as possible, and store at -20°C
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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
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Routine Contact Name:
RVI: Duty Biochemist
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Routine Telephone:
Freeman: 0191 244 8889
RVI: 0191 282 9719
Freeman: 0191 244 8889
RVI: 0191 282 9719
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Routine Email:
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Specialist Test:
Yes
Yes
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Specialist Contact Name:
Metabolic Clinical Scientist
Metabolic Clinical Scientist
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Specialist Telephone:
0191 282 9685 (Consultant Clinical Scientist)
0191 282 0334 (Metabolic Laboratory)
0191 282 9685 (Consultant Clinical Scientist)
0191 282 0334 (Metabolic Laboratory)
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Specialist Email: