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Early-onset hyperargininaemia: a severe disorder?
M Schiff1, J-F Benoist, M L Cardoso
1Centre de référence Maladies Métaboliques, Hôpital Robert Debré, APHP, Paris, France. manuel.schiff@rdb.aphp.fr
Journal of Inherited Metabolic Disease
|April 22, 2009
Summary
Hyperargininaemia, a rare urea cycle disorder, can present in newborns with severe symptoms. Early diagnosis and treatment are vital for preventing poor neurological outcomes in affected infants.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Hyperargininaemia is a rare urea cycle disorder affecting the final step of ammonia detoxification.
- Infantile onset is typical, often presenting with vomiting and psychomotor delay, while chronic hyperammonaemia can be overlooked.
- Neonatal and early-onset hyperargininaemia are uncommon, with limited data on their clinical course.
Observation:
- A 3-week-old infant with hyperargininaemia presented with neurological deterioration, liver failure, and prolonged ammonia intoxication.
- Diagnosis and initiation of treatment were delayed by 47 days.
- Despite timely treatment, the patient showed severe psychomotor delay by 1 year of age.
Findings:
- This case highlights the potential for severe, early-onset presentation of hyperargininaemia.
- Delayed diagnosis and treatment in neonates can lead to significant neurological impairment.
- Even with appropriate management, the neurological outcome can be poor if treatment is not initiated promptly.
Implications:
- Early identification and prompt management of hyperargininaemia are critical for improving neurological outcomes.
- Increased awareness of neonatal hyperargininaemia is needed for timely diagnosis.
- This condition, though rare, is treatable, emphasizing the importance of early intervention.
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