Summary
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.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Arn PH, Hauser ER, Thomas GH, Herman G, Hess D, Brusilow SW (1990) Hyperammonemia in women with a mutation at the ornithine carbamoyltransferase locus: a cause of postpartum coma.N Engl J Med 322: 1652–1655.
Brusilow SW, Horwich AL (1995) Urea cycle enzymes. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds.The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 1187–1232.
Lenke RL, Levy HL (1980) Maternal phenylketonuria and hyperphenylalaninaemia. An international survey of untreated and treated pregnancies.N Engl J Med 303: 1202–1208.
Maestri NE, Hauser ER, Bartholomew D, Brusilow SW (1991) Prospective treatment of urea cycle disorders.J Pediatr 119: 923–928.
Maestri NE, McGowan KD, Brusilow SW (1992) Plasma glutamine concentration: a guide in the management of urea cycle disorders.J Pediatr 121: 259–261.
Shih VE (1972) Early dietary management in an infant with argininosuccinase deficiency: preliminary report.J Pediatr 80: 645–648.
Shih VE (1978) Urea cycle disorders and other congenital hyperammonemic syndromes. In: Stanbury JB, Wyngaarden JB, Fredrickson DS, eds.The Metabolic Basis of Inherited Disease. New York: McGraw-Hill, 362–386.
Widhalm K, Koch S, Scheibenreiter S, et al (1992) Long-term followup of 12 patients with the late-onset variant of argininosuccinic acid lyase deficiency: no impairment of intellectual and psychomotor development during therapy.Pediatrics 89: 1182–1184.
Wong LJ, Craigen WJ, O'Brien WE (1994) Postpartum coma and death due to carbamoyl-phosphate synthetase I deficiency.Ann Intern Med 120: 216–217.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Worthington, S., Christodoulou, J., Wilcken, B. et al. Pregnancy and argininosuccinic aciduria. J Inherit Metab Dis 19, 621–623 (1996). https://doi.org/10.1007/BF01799836
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF01799836