Aromatic L-amino Acid Decarboxylase Enzyme Analysis (Plasma)

Plasma

1 mL

0.5 mL

Sterile screw capped vial

Collect 2-4 milliliters of blood in EDTA (purple top) or sodium heparin (green top) tube. Remove plasma and freeze at -80°Celsius; Preferred volume: 1.0 milliliter, minimum volume 0.5 milliliter.

Freeze as soon as possible after collection; Ship within 24 hours. Ship samples priority overnight on 3-4 lbs of dry ice. Sample must arrive in our lab Monday - Saturday. We do NOT accept Sunday or holiday deliveries.

Room Temperature: Not stable; Refrigerated: not stable; Frozen: 72 hours @ -20C, Indefinitely @ -80C; Freeze/Thaw: None

Incorrect sample type received; Sample received thawed; Sample hemolyzed or bloody

Aromatic L-amino acid Decarboxylase Enzyme Analysis (ENZ01) is used for the diagnosis of Aromatic L-amino acid decarboxylase (AADC) deficiency. Aromatic L-amino acid Decarboxylase Enzyme Analysis (ENZ01) may also be used for assessment of Variants of Uncertain Significance (VUS) identified during genetic testing (e.g. Next Generation Sequencing or Capillary Sequencing Testing).

AADC deficiency is a rare autosomal recessive disorder of neurotransmitter synthesis. Clinical manifestations include severe floppiness, oculogyric crises, athetoid movement, prominent startle response, tongue thrusting, ptosis, paroxysmal diaphoresis, nasal congestion, diarrhea, irritability and sleep disorders.

Treatment of AADC deficiency generally relies on the use of neurotransmitter agonists and the use of monoamine oxidase inhibitors. L-dopa is not appropriate for most cases of AADC deficiency unless a binding defect for this substrate has been demonstrated. Gene replacement therapy is also available.

Enzymology/HPLC/Electrochemistry