Journal of Inherited Metabolic Disease

, Volume 19, Issue 5, pp 621–623

Pregnancy and argininosuccinic aciduria


  • S. Worthington
    • Western Sydney Genetics Program
  • J. Christodoulou
    • Western Sydney Genetics Program
    • Department of Paediatrics and Child HealthUniversity of Sydney
  • B. Wilcken
    • Western Sydney Genetics Program
  • B. Peat
    • Department of PerinatologyRoyal Prince Alfred Hospital

DOI: 10.1007/BF01799836

Cite this article as:
Worthington, S., Christodoulou, J., Wilcken, B. et al. J Inherit Metab Dis (1996) 19: 621. doi:10.1007/BF01799836


We present the outcome of a pregnancy in a woman with mild argininosuccinic lyase deficiency to add to the collective experience of the maternal and fetal effects of urea cycle defects. In females affected with argininosuccinic lyase deficiency, careful clinical and biochemical monitoring of pregnancy will minimize the risk of metabolic decompensation in the perinatal period. Furthermore, it would appear that argininosuccinate is not teratogenic to the development of the human fetus.

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© SSIEM and Kluwer Academic Publishers 1996