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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Early-onset hyperargininaemia: A severe disorder?
Journal of Inherited Metabolic Disease, Volume 32, No. SUPPL. 1, Year 2009
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Description
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. © SSIEM and Springer 2009.
Authors & Co-Authors
Schiff, Manuel
France, Paris
Hôpital Robert-debré Ap-hp
Benoist, J. F.
France, Paris
Hôpital Robert-debré Ap-hp
Cardoso, M. L.
Portugal, Lisbon
Instituto Nacional de Saúde Dr. Ricardo Jorge
Elmaleh-Bergés, Monique
France, Paris
Hôpital Robert-debré Ap-hp
Forey, P.
France
Hôpital D'enfants
Santiago, J.
Mayotte, Mamoudzou
Centre Hospitalier de Mayotte
Ogier-de Baulny, Hélène A.M.
France, Paris
Hôpital Robert-debré Ap-hp
Statistics
Citations: 12
Authors: 7
Affiliations: 4
Identifiers
Doi:
10.1007/s10545-009-1137-5
ISSN:
01418955
e-ISSN:
15732665
Research Areas
Health System And Policy
Maternal And Child Health
Participants Gender
Female