Erschienen in:
01.12.2009 | Short Report
Early-onset hyperargininaemia: A severe disorder?
verfasst von:
M. Schiff, J.-F. Benoist, M. L. Cardoso, M. Elmaleh-Bergès, P. Forey, J. Santiago, H. Ogier de Baulny
Erschienen in:
Journal of Inherited Metabolic Disease
|
Sonderheft 1/2009
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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.