Chronic vomiting in a case of citrullinaemia detected after treatment by total parenteral nutrition

• Published in: Gut Vol. 25; no. 5; pp. 531 - 533
• Main Authors: Benque, A, Bommelaer, G, Rozental, G, Cales, P, Cathelineau, L, Pham Dinh, D, Ribet, A
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd and British Society of Gastroenterology 01.05.1984; BMJ; BMJ Publishing Group LTD
• Subjects: Amino Acid Metabolism, Inborn Errors - complications; Amino Acid Metabolism, Inborn Errors - diagnosis; Amino Acid Metabolism, Inborn Errors - diet therapy; Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy; Argininosuccinate Synthase - metabolism; Biological and medical sciences; Chronic Disease; Citrulline - blood; Emergency and intensive care: injuries, diseases due to physical agents. Diving. Drowning. Disaster medicine; Emergency and intensive care: metabolism and nutrition disorders. Enteral and parenteral nutrition; Female; Humans; Intensive care medicine; Medical sciences; Middle Aged; Parenteral Nutrition; Parenteral Nutrition, Total; Vomiting - etiology; Vomiting - therapy; Human; Citrullinemia; Vomiting; Parental administration; Resuscitation; Feeding
• ISSN: 0017-5749; 1468-3288; 1458-3288
• DOI: 10.1136/gut.25.5.531

We report a case of a 56 year old woman who presented with a long history of chronic attacks of vomiting. On admission to hospital she was cachectic, and attempted parenteral nutrition induced coma. The illness was found to be due to citrullinaemia, a metabolic disorder of the urea cycle. Our patient is the oldest with this disorder so far described in the literature. The main points of the case and its investigation are outlined: hyperammonaemia, amino acid chromatogram, measurement of enzyme activity in skin and liver biopsy material. The therapeutic measures which led to cure are of particular interest.