Early-onset hyperargininaemia: a severe disorder?
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.


CONCLUSIONS
Early identification and management of this rare but potentially treatable affection is crucial as delayed management may result in poor neurological outcome.
Schiff
M
M
Centre de référence Maladies Métaboliques, Hôpital Robert Debré, APHP, Paris, France. manuel.schiff@rdb.aphp.fr
Benoist
J-F
JF
Cardoso
M L
ML
Elmaleh-Bergès
M
M
Forey
P
P
Santiago
J
J
Ogier de Baulny
H
H
D017668:Age of Onset; D057210:Delayed Diagnosis; D018753:Diet, Protein-Restricted; D042241:Early Diagnosis; D005260:Female; D006801:Humans; D020162:Hyperargininemia / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D007223:Infant; D007231:Infant, Newborn; D011596:Psychomotor Disorders / Q000209:etiology