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Early-onset hyperargininaemia: a severe disorder?
- Source :
- Journal of inherited metabolic disease. 32
- Publication Year :
- 2009
-
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.
- Subjects :
- medicine.medical_specialty
Pediatrics
Delayed Diagnosis
Genetics
medicine
Diet, Protein-Restricted
Humans
Age of Onset
Hyperargininaemia
Genetics (clinical)
Severe disorder
Early onset
Hyperargininemia
business.industry
Maple syrup urine disease
Liver failure
Infant, Newborn
Infant
medicine.disease
Surgery
Early Diagnosis
Inborn error of metabolism
Urea cycle
Female
Age of onset
Psychomotor Disorders
business
Subjects
Details
- ISSN :
- 15732665
- Volume :
- 32
- Database :
- OpenAIRE
- Journal :
- Journal of inherited metabolic disease
- Accession number :
- edsair.doi.dedup.....c7476c274697a84b14aaa4681fb06856