Early-onset hyperargininaemia: A severe disorder? View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2009-12

AUTHORS

M. Schiff, J.-F. Benoist, M. L. Cardoso, M. Elmaleh-Bergès, P. Forey, J. Santiago, H. Ogier de Baulny

ABSTRACT

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. More... »

PAGES

175-178

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s10545-009-1137-5

DOI

http://dx.doi.org/10.1007/s10545-009-1137-5

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1002533564

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/19381865


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