Search tips
Search criteria 


Logo of archdischArchives of Disease in ChildhoodVisit this articleSubmit a manuscriptReceive email alertsContact usBMJ
Arch Dis Child. 1971 December; 46(250): 847–851.
PMCID: PMC1647944

Citrullinaemia with Rapidly Fatal Neonatal Course


An infant with a deficiency of argininosuccinate synthetase in liver and brain developed rapidly increasing apathy, respiratory insufficiency, and convulsions from the fourth day of life, and died on the seventh day. There was a profound derangement of amino acid concentrations in blood, CSF, and urine, with very high citrulline levels. This patient differs from other cases reported previously, both in her fulminant and fatal course in the neonatal period and in the greater biochemical disturbance.

Full text

Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (711K), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References.

Images in this article

Click on the image to see a larger version.

Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • ALLAN JD, CUSWORTH DC, DENT CE, WILSON VK. A disease, probably hereditary characterised by severe mental deficiency and a constant gross abnormality of aminoacid metabolism. Lancet. 1958 Jan 25;1(7013):182–187. [PubMed]
  • Baumgartner R, Scheidegger S, Stalder G, Hottinger A. Argininbernsteinsäure-Krankheit des Neugeborenen mit latelem Verlauf. (Neonatal Death due to Argininosuccinic Aciduria) Helv Paediatr Acta. 1968 Feb;23(1):77–106. [PubMed]
  • BROWN GW, Jr, COHEN PP. Comparative biochemistry of urea synthesis. I. Methods for the quantitative assay of urea cycle enzymes in liver. J Biol Chem. 1959 Jul;234(7):1769–1774. [PubMed]
  • Carton D, De Schrijver F, Kint J, Van Durme J, Hooft C. Argininosuccinic aciduria. Neonatal variant with rapid fatal course. Acta Paediatr Scand. 1969 Sep;58(5):528–534. [PubMed]
  • Floyd JC, Jr, Fajans SS, Conn JW, Knopf RF, Rull J. Stimulation of insulin secretion by amino acids. J Clin Invest. 1966 Sep;45(9):1487–1502. [PMC free article] [PubMed]
  • GHADIMI H, PECORA P. PLASMA AMINO ACIDS AFTER BIRTH. Pediatrics. 1964 Aug;34:182–191. [PubMed]
  • MCMURRAY WC, RATHBUN JC, MOHYUDDIN F, KOEGLER SJ. CITRULLINURIA. Pediatrics. 1963 Sep;32:347–357. [PubMed]
  • Mohyuddin F, Rathbun JC, McMurray WC. Studies on amino acid metabolism in citrullinuria. Am J Dis Child. 1967 Jan;113(1):152–156. [PubMed]
  • Morrow G. Citrullinemia. A preliminary case report. Am J Dis Child. 1967 Jan;113(1):157–159. [PubMed]
  • Morrow G, 3rd, Barness LA, Efron ML. Citrullinemia with defective urea production. Pediatrics. 1967 Oct;40(4):565–574. [PubMed]
  • Räihä NC, Suihkonen J. Development of urea-synthesizing enzymes in human liver. Acta Paediatr Scand. 1968 Mar;57(2):121–124. [PubMed]
  • RUSSELL A, LEVIN B, OBERHOLZER VG, SINCLAIR L. Hyperammonaemia. A new instance of an inborn enzymatic defect of the biosynthesis of urea. Lancet. 1962 Oct 6;2(7258):699–700. [PubMed]
  • SCHIMKE RT. Adaptive characteristics of urea cycle enzymes in the rat. J Biol Chem. 1962 Feb;237:459–468. [PubMed]
  • Szepesi B, Freedland RA. Time-course of enzyme adaptation-II. The rate of change in two urea cycle enzymes. Life Sci. 1969 Oct 15;8(20):1067–1072. [PubMed]
  • Tedesco TA, Mellman WJ. Argininosuccinate synthetase activity and citrulline metabolism in cells cultured from a citrullinemic subject. Proc Natl Acad Sci U S A. 1967 Mar;57(3):829–834. [PubMed]
  • van Sande M, Mardens Y, Adriaenssens K, Lowenthal A. The free amino acids in human cerebrospinal fluid. J Neurochem. 1970 Feb;17(2):125–135. [PubMed]
  • Wick H, Brechbühler T, Girard J. Citrullinemia: elevated serum citrulline levels in healthy siblings. Experientia. 1970 Aug 15;26(8):823–824. [PubMed]

Articles from Archives of Disease in Childhood are provided here courtesy of BMJ Publishing Group