Early-onset hyperargininaemia: A severe disorder?
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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.
KeywordsArginase Maple Syrup Urine Disease Orotic Acid Maple Syrup Urine Disease Poor Neurological Outcome
essential amino acids
serum glutamic oxaloacetic transaminase
serum glutamic pyruvic transaminase
urea cycle disorder
We are particularly grateful to Dr Daniel Rabier, who performed arginase activity measurement in red blood cells.
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