Citrullinaemia with Rapidly Fatal Neonatal Course

• Published in: Archives of disease in childhood Vol. 46; no. 250; pp. 847 - 851
• Main Authors: Van Der Zee, S. P. M., Trijbels, J. M. F., Monnens, L. A. H., Hommes, F. A., Schretlen, E. D. A. M.
• Format: Journal Article
• Language: English
• Published: England BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health 01-12-1971; BMJ Publishing Group LTD
• Subjects: Amino Acid Metabolism, Inborn Errors - blood; Amino Acid Metabolism, Inborn Errors - cerebrospinal fluid; Amino Acid Metabolism, Inborn Errors - enzymology; Amino Acid Metabolism, Inborn Errors - urine; Amino acids; Amino Acids - blood; Amino Acids - cerebrospinal fluid; Amino Acids - urine; Brain - enzymology; Citrulline - blood; Citrulline - cerebrospinal fluid; Citrulline - urine; Electrophoresis; Female; Humans; Infant, Newborn; Infant, Newborn, Diseases - blood; Ligases; Liver - enzymology; Respiratory Insufficiency - etiology; Seizures - etiology
• ISSN: 0003-9888; 1468-2044
• DOI: 10.1136/adc.46.250.847

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.