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Alpha Amino Adipic Semialdehyde
(a.k.a AASA)

Test Code: AASA

Special instructions
Send to lab immediately following collection

Sample Type
Random urine

Sent away to UCL, Insitute of Child Health

Turnaround Time
60 days

Department: Biochemistry

Clinical Application
Pyridoxine-dependent epilepsy is an autosomal recessive disease caused by mutations in the alpha-aminoadipic semialdehyde dehydrogenase gene. This enzyme is involved in the cerebral lysine degradation pathway. Deficiency of the enzyme leads to the accumulation of AASA, elevated levels of which can be found in urine, plasma and CSF. Patients present with seizures that can be controlled by pyridoxine B6.