Early-onset hyperargininaemia: A severe disorder?

• Published in: Journal of inherited metabolic disease Vol. 32; no. Suppl 1; pp. 175 - 178
• Main Authors: Schiff, M., Benoist, J.-F., Cardoso, M. L., Elmaleh-Bergès, M., Forey, P., Santiago, J., Ogier de Baulny, H.
• Format: Journal Article
• Language: English
• Published: Dordrecht Springer Netherlands 01-12-2009; Blackwell Publishing Ltd
• Subjects: Age of Onset; Biochemistry; Delayed Diagnosis; Diet, Protein-Restricted; Early Diagnosis; Female; Human Genetics; Humans; Hyperargininemia - complications; Hyperargininemia - diagnosis; Hyperargininemia - pathology; Infant; Infant, Newborn; Internal Medicine; Medicine; Medicine & Public Health; Metabolic Diseases; Pediatrics; Psychomotor Disorders - etiology; Short Report; Arginase; Maple Syrup Urine Disease; Poor Neurological Outcome; Orotic Acid
• ISSN: 0141-8955; 1573-2665
• DOI: 10.1007/s10545-009-1137-5

Summary
Hyperargininaemia is a rare inborn error of metabolism due to a defect in the final step of the urea cycle. Infantile onset is the most common presentation with recurrent vomiting and psychomotor delay associated with spastic paraparesis; chronic hyperammonaemia is often overlooked. Neonatal and early-onset presentations are very uncommon and their clinical course not well-described. We report on a 3-week-old hyperargininaemic girl who presented with neurological deterioration associated with liver failure and 47-day ammonia intoxication before diagnosis could be made and treatment started. Despite appropriate but delayed treatment, our patient exhibited severe psychomotor delay at age 1 year.
Conclusion
Early identification and management of this rare but potentially treatable affection is crucial as delayed management may result in poor neurological outcome.