Review Article| Volume 21, ISSUE 4, SUPPLEMENT , S37-S44, October 2005

Genetic Counseling Issues in Urea Cycle Disorders

      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'

      Subscribers receive full online access to your subscription and archive of back issues up to and including 2002.

      Content published before 2002 is available via pay-per-view purchase only.


      Subscribe to Critical Care Clinics
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect


        • Summar M.
        • Tuchman M.
        Urea cycle disorders overview. In: GeneReviews at GeneTests. Medical genetics information resource. Copyright, University of Washington, Seattle. 1997–2005.
        (Available at:) (Accessed March 1, 2005)
        • Nagata N.
        • Matsuda I.
        • Oyanagi K.
        Estimated frequency of urea cycle enzymopathies in Japan [letter].
        Am J Med Genet. 1991; 39: 228-229
        • Brusilow S.W.
        Urea cycle disorders: clinical paradigm of hyperammonemic encephalopathy.
        Prog Liver Dis. 1995; 13: 293-309
        • Eisenberg B.
        • Wapner R.J.
        Clinical proceduress in prenatal diagnosis.
        Best Pract Res Clin Obstet Gynaecol. 2002; 16: 611-627
        • Buscaglia M.
        • Ghisoni L.
        • Bellotti M.
        • et al.
        Percutaneous umbilical blood sampling: indication changes and procedure loss rate in a nine years' experience.
        Fetal Diagn Ther. 1996; 11: 106-113
        • Murotsuki J.
        • Uehara S.
        • Okamura K.
        • et al.
        Fetal liver biopsy for prenatal diagnosis of carbamoyl phosphate synthetase deficiency.
        Am J Perinatol. 1994; 11: 160-162
        • Hewson S.
        • Clarke J.T.
        • Cederbaum S.
        Prenatal diagnosis for arginase deficiency: a case study.
        J Inherit Metab Dis. 2003; 26: 607-610
      1. Linkage analysis for prenatal diagnosis of an X-linked disorder. Genetests: Medical Genetics Information Resource. Educational Materials: Illustrated Glossary, Linkage Analysis. Copyright, University of Washington, Seattle. 1993–2005.
        (Available at:) (Accessed March 1, 2005)
        • Bridge P.J.
        The calculation of genetic risks: worked examples in DNA diagnostics. 2nd edition. Johns Hopkins University Press, Baltimore (MD)1997
        • Scaglia F.
        • Zheng Q.
        • O'Brien W.E.
        • et al.
        An integrated approach to the diagnosis and prospective management of partial ornithine transcarbamylase deficiency.
        Pediatrics. 2002; 109: 150-152
        • Lee B.
        • Yu H.
        • Jahoor F.
        • et al.
        In vivo urea cycle flux distinguishes and correlates with phenotypic severity in disorders of the urea cycle.
        Proc Natl Acad Sci USA. 2000; 97: 8021-8026