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argininosuccinate lyase deficiency; argininosuccinic aciduria; argininosuccinic acidemia
Etiology:
- deficiency in urea cycle enzyme argininosuccinate lyase
Pathology:
- hyperammonemia due to malfunction of the urea cycle
Clinical manifestations:
- see hyperammonemia
Laboratory:
- plasma ammonia is elevated
- elevated urine argininosuccinate
- elevated serum argininosuccinate
- low serum argininosuccinate lyase
Management:
- immediate: see hyperammonemia
- long-term:
- low-protein diet
- arginine supplementation
- liver transplantation
- donor cell engraftment
- consults
- pediatric critical care (as needed)
- medical geneticist
- dietician
Related
argininosuccinate lyase (argininosuccinase, ASAL, ASL)
General
urea cycle disorder
References
- Roth KS et al
eMedicine: Argininosuccinate Lyase Deficiency
http://emedicine.medscape.com/article/950752-overview