Argininosuccinic Aciduria

Argininosuccinic aciduria (ASA) is a disorder of the urea cycle. Patients may present at any age, but onset is typically in the neonatal period or late infancy. The neonatal presentation is characterized with a normal delivery followed by lethargy, vomiting, poor feeding, hypothermia, hyperventilation, decreased consciousness and coma, while later-onset patients usually present with less severe symptoms including vomiting, failure to thrive, irritability, behavioral problems or psychomotor retardation. Trichorrhexis nodosa may occur, but usually in severe cases

Tests Available

Forms and Documents

Test Details

ASL
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

426
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 270.6 Disorders of urea cycle metabolism, Argininosuccinic aciduria, Citrullinemia, Disorders of metabolism of ornithine, citrulline, argininosuccinic acid, arginine, and ammonia, Hyperammonemia, Hyperornithinemia
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References

  1. Barbosa et al., (1991) J Biol Chem 266:5286.
  2. Mercimek-Mahmutoglu et al., (2010) Mol Genet Metab 100:24.
  3. Al- Sayed, et al., (2005) J Inherit Metab Dis 28:877-883
  4. Imtiaz BMC Res Notes 18:79.
  5. Linnebank, et al., (2002) Hum Genet 111:350-359.