Severe Hyperammonemia in Late-Onset Ornithine Transcarbamylase Deficiency Triggered by Steroid Administration.
- Resource Type
- Article
- Authors
- Gascon-Bayarri, Jordi; Campdelacreu, Jaume; Estela, Jordi; Reñé, Ramon
- Source
- Case Reports in Neurological Medicine. 4/9/2015, Vol. 2015, p1-3. 3p.
- Subject
- *HYPERAMMONEMIA
*METABOLIC disorder treatment
*METABOLIC disorder diagnosis
*METABOLIC disorders
*ORNITHINE carbamoyltransferase deficiency
*UREA synthesis
*STEROID drugs
*DRUG administration
*PATIENTS
- Language
- ISSN
- 2090-6668
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. [ABSTRACT FROM AUTHOR]