Severe Hyperammonemia in Late-Onset Ornithine Transcarbamylase Deficiency Triggered by Steroid Administration
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 wh...
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| Format: | Article |
| Language: | English |
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Wiley
2015-01-01
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| Series: | Case Reports in Neurological Medicine |
| Online Access: | http://dx.doi.org/10.1155/2015/453752 |
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| author | Jordi Gascon-Bayarri Jaume Campdelacreu Jordi Estela Ramon Reñé |
| author_facet | Jordi Gascon-Bayarri Jaume Campdelacreu Jordi Estela Ramon Reñé |
| author_sort | Jordi Gascon-Bayarri |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-625dc61e6c054bffa80e0b24493f0087 |
| institution | Kabale University |
| issn | 2090-6668 2090-6676 |
| language | English |
| publishDate | 2015-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Neurological Medicine |
| spelling | doaj-art-625dc61e6c054bffa80e0b24493f00872025-02-03T01:02:17ZengWileyCase Reports in Neurological Medicine2090-66682090-66762015-01-01201510.1155/2015/453752453752Severe Hyperammonemia in Late-Onset Ornithine Transcarbamylase Deficiency Triggered by Steroid AdministrationJordi Gascon-Bayarri0Jaume Campdelacreu1Jordi Estela2Ramon Reñé3Unitat de Diagnòstic i Tractament de les Demències, Neurology Service, Hospital Universitari de Bellvitge, Feixa Llarga s/n, 08907 L’Hospitalet de Llobregat, SpainUnitat de Diagnòstic i Tractament de les Demències, Neurology Service, Hospital Universitari de Bellvitge, Feixa Llarga s/n, 08907 L’Hospitalet de Llobregat, SpainNeurology Service, Hospital Universitari Parc Taulí, Parc del Taulí 1, 08208 Sabadell, SpainUnitat de Diagnòstic i Tractament de les Demències, Neurology Service, Hospital Universitari de Bellvitge, Feixa Llarga s/n, 08907 L’Hospitalet de Llobregat, SpainOrnithine 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.http://dx.doi.org/10.1155/2015/453752 |
| spellingShingle | Jordi Gascon-Bayarri Jaume Campdelacreu Jordi Estela Ramon Reñé Severe Hyperammonemia in Late-Onset Ornithine Transcarbamylase Deficiency Triggered by Steroid Administration Case Reports in Neurological Medicine |
| title | Severe Hyperammonemia in Late-Onset Ornithine Transcarbamylase Deficiency Triggered by Steroid Administration |
| title_full | Severe Hyperammonemia in Late-Onset Ornithine Transcarbamylase Deficiency Triggered by Steroid Administration |
| title_fullStr | Severe Hyperammonemia in Late-Onset Ornithine Transcarbamylase Deficiency Triggered by Steroid Administration |
| title_full_unstemmed | Severe Hyperammonemia in Late-Onset Ornithine Transcarbamylase Deficiency Triggered by Steroid Administration |
| title_short | Severe Hyperammonemia in Late-Onset Ornithine Transcarbamylase Deficiency Triggered by Steroid Administration |
| title_sort | severe hyperammonemia in late onset ornithine transcarbamylase deficiency triggered by steroid administration |
| url | http://dx.doi.org/10.1155/2015/453752 |
| work_keys_str_mv | AT jordigasconbayarri severehyperammonemiainlateonsetornithinetranscarbamylasedeficiencytriggeredbysteroidadministration AT jaumecampdelacreu severehyperammonemiainlateonsetornithinetranscarbamylasedeficiencytriggeredbysteroidadministration AT jordiestela severehyperammonemiainlateonsetornithinetranscarbamylasedeficiencytriggeredbysteroidadministration AT ramonrene severehyperammonemiainlateonsetornithinetranscarbamylasedeficiencytriggeredbysteroidadministration |