Argininosuccinate lyase

Argininosuccinate lyase deficiency (urea cycle disorder)

Chemical Pathology - Enzyme

For the diagnosis of argininosuccinate lyase deficiency (urea cycle disorder), an inherited disorder that causes ammonia to accumulate in the blood

1. 5 - 10 mL lithium heparin whole blood or

2. Liver biopsy

1. Send whole blood at ambient room temperature to reach the lab ideally within 24 hours of collection

2. Snap freeze immediately. Send sample on dry ice. Do NOT allow sample to thaw. To reach lab ideally within 24 hours

6 weeks

Argininosuccinate Lyase Deficiency, ASL, Argininosuccinic acidemia, Argininosuccinyl-CoA lyase deficiency, Arginosuccinase deficiency

No