UNLABELLED: 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.
UNLABELLED: 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.
Authors: Joshua L Deignan; Bart Marescau; Justin C Livesay; Ramaswamy K Iyer; Peter P De Deyn; Stephen D Cederbaum; Wayne W Grody Journal: Mol Genet Metab Date: 2007-11-07 Impact factor: 4.797
Authors: Jonathan D Picker; Ana C Puga; Harvey L Levy; Deborah Marsden; Vivian E Shih; Umberto Degirolami; Keith L Ligon; Stephen D Cederbaum; Rita M Kern; Gerald F Cox Journal: J Pediatr Date: 2003-03 Impact factor: 4.406
Authors: T Uchino; S E Snyderman; M Lambert; I A Qureshi; S K Shapira; C Sansaricq; L M Smit; C Jakobs; I Matsuda Journal: Hum Genet Date: 1995-09 Impact factor: 4.132
Authors: Jun-ichi Takanashi; A James Barkovich; Sabrina F Cheng; Kara Weisiger; Carol O Zlatunich; Christine Mudge; Philip Rosenthal; Mendel Tuchman; Seymour Packman Journal: AJNR Am J Neuroradiol Date: 2003 Jun-Jul Impact factor: 3.825