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European Journal of Pediatrics

, Volume 150, Issue 10, pp 730–731 | Cite as

Neonatal citrullinaemia with satisfactory mental development

  • P. Sanjurjo
  • J. Rodríguez-Soriano
  • A. Vallo
  • A. Arranz
  • V. Rubio
Metabolic Diseases

Abstract

In an infant with neonatal citrullinaemia therapy was instituted on day 1 of life with a low-protein diet and oral supplements of arginine, α-keto-acids, essential amino acids and carnitine. The latter may have contributed to the excellent clinical outcome, as evidenced by normal growth and satisfactory psychomotor development at 3 years of age.

Key words

Urea cycle metabolism disorders Citrullinaemia Hyperammonaemia Carnitine 

References

  1. 1.
    Batshaw M, Brusilow SW (1980) Treatment of hyperammonemic coma caused by inborn errors of urea synthesis. J Pediatr 97:893–900PubMedGoogle Scholar
  2. 2.
    Buist NRM, Kennaway NG, Hepburn CA, Strandholm JJ, Ramberg DA (1974) Citrullinemia: investigation and treatment over a four-year period. J Pediatr 85:208–214PubMedGoogle Scholar
  3. 3.
    Costell M, Miguez MP, O'Connor JE, Grisolía S (1987) Effect of hyperammonemia on the levels of carnitine in mice. Neurology 37:804–808PubMedGoogle Scholar
  4. 4.
    Danks DM, Tippet P, Zetner G (1974) Severe neonatal citrullinemia. Arch Dis Child 49:579–581PubMedGoogle Scholar
  5. 5.
    Kleijer WJ, Thoomes R, Galjaard H, Wendel U, Fowler B (1984) First-trimester (chorion biopsy) diagnosis of citrullinemia and methylmalonicacidurie. Lancet II:1340Google Scholar
  6. 6.
    Laub MC, Paetzke-Brunner I, Jaeger G (1986) Serum carnitine during valproic acid therapy. Epilepsia 27:559–562PubMedGoogle Scholar
  7. 7.
    Mori T, Tsochiyama A, Nagai K, Nagao M, Oyanagi K, Tsugawa S (1990) A case of carbamylphosphate synthetase-I deficiency associated with secondary carnitine deficiency-l-carnitine treatment of CSPI deficiency. Eur J Pediatr 149:272–274PubMedGoogle Scholar
  8. 8.
    O'Connor JE, Costell M, Grisolía S (1987) The potentiation of ammonia toxicity by sodium benzoate is prevented byl-carnitine. Biochem Biophys Res Commun 145:817–824PubMedGoogle Scholar
  9. 9.
    Ohtani Y, Ohyanagi K, Yamamoto S, Matsuda I (1988) Secondary carnitine deficiency in hyperammonemic attacks of ornithine transcarbamylase deficiency. J Pediatr 112:409–414PubMedGoogle Scholar
  10. 10.
    Plasse M, Serre JC, Joannard A, Favier A, Grandgeorges D, Frappat P, Bost M (1980) Forme néonatale svére de citrullinémie, difficulté de la mise en évidence de l'héterozygotie. Interêt du dépistage anténatal. Ann Pédiatr 27:491–496Google Scholar
  11. 11.
    Roe CP, Bohan TP (1982)l-carnitine therapy in propionic-acidemia. Lancet I:1141–1142Google Scholar
  12. 12.
    Seccombe DW, Snyder F, Parson HG (1982)l-carnitine for methylmalonicaciduria. Lancet II:1401–1402Google Scholar
  13. 13.
    Tenenbaum D, Petion AM, Desgres J, Nivelon-Chevalier A, Gambert P, Nivelon JL (1987) Traitement de la citrullinémie. A propos d'un cas pris en charge dès la naissance. Interêt des acides alpha-cétoniques. Arch Fr Pediatr 44:855–861PubMedGoogle Scholar
  14. 14.
    Thoene J, Batshaw M, Spector E (1977) Neonatal citrullinemia: treatment with ketoanalogues of essential amino acids. J Pediatr 90:218–224PubMedGoogle Scholar
  15. 15.
    Walser M, Batshaw M, Sherwood G, Robinson B, Brusilow S (1977) Nitrogen metabolism in neonatal citrullinemia. Clin Sci Mol Med 53:173–181PubMedGoogle Scholar

Copyright information

© Springer-Verlag 1991

Authors and Affiliations

  • P. Sanjurjo
    • 1
  • J. Rodríguez-Soriano
    • 1
  • A. Vallo
    • 1
  • A. Arranz
    • 1
  • V. Rubio
    • 2
  1. 1.Department of PaediatricsHospital Infantil de Cruces and Basque University School of MedicineBilbaoSpain
  2. 2.Instituto de Investigaciones Citológicas de la Caja de Ahorros de ValenciaValenciaSpain

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