title: Severe hyperammonemia in late-onset ornithine transcarbamylase deficiency triggered by steroid administration.
abstract: Ornithine transcarbamylase deficiency (OTCD) is a rare X-linked disorder of urea synthesis leading to hyperammonemia. Several late-onset cases have been reported. Undiagnosed and untreated patients are at the risk of death or suffering from irreversible sequelae. We describe a 56-year-old patient who presented with acute encephalopathy after steroid treatment. Hyperammonemia due to OTCD was diagnosed and a mutation was found. This allowed us to diagnose two other family members with unexplained encephalopathy who are now asymptomatic on a low-protein diet. OTCD should be considered in any patient with hyperammonemic encephalopathy and immediate treatment should be given to avoid a fatal outcome. We emphasize the need to examine other family members if the diagnosis is confirmed, in order to prevent further life-threatening episodes of encephalopathy or neonatal coma of newborn.
authors.affiliation: Unitat de Diagnòstic i Tractament de les Demències, Neurology Service, Hospital Universitari de Bellvitge, Feixa Llarga s/n, 08907 L'Hospitalet de Llobregat, Spain.
authors.forename: Jordi
authors.initials: J
authors.lastname: Gascon-Bayarri
authors.affiliation: Unitat de Diagnòstic i Tractament de les Demències, Neurology Service, Hospital Universitari de Bellvitge, Feixa Llarga s/n, 08907 L'Hospitalet de Llobregat, Spain.
authors.forename: Jaume
authors.initials: J
authors.lastname: Campdelacreu
authors.affiliation: Neurology Service, Hospital Universitari Parc Taulí, Parc del Taulí 1, 08208 Sabadell, Spain.
authors.forename: Jordi
authors.initials: J
authors.lastname: Estela
authors.affiliation: Unitat de Diagnòstic i Tractament de les Demències, Neurology Service, Hospital Universitari de Bellvitge, Feixa Llarga s/n, 08907 L'Hospitalet de Llobregat, Spain.
authors.forename: Ramon
authors.initials: R
authors.lastname: Reñé