Neonatal-onset of ornithine transcarbamylase deficiency: a case of severe hyperammonaemia
Severe hyperammonemia, if untreated, rapidly leads to encephalopathy, cerebral oedema, and death. It can result from inherited or acquired disorders. A full-term baby boy, with Apgar score of 9, was intubated for transient tachypnoea of the newborn (TTN) at 30 minutes of life. He was extubated at 21...
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| Format: | Article |
| Language: | English |
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Faculty of Medicine and Health Sciences, Universiti Putra Malaysia
2024
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| Online Access: | http://psasir.upm.edu.my/id/eprint/118329/ http://psasir.upm.edu.my/id/eprint/118329/1/118329.pdf |
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| author | Samsudin, Intan Nureslyna Ariffin, Afiqah Lai, Yin Ye Chellappah Thambiah, Subashini Tengku Yazid, Tengku Norita |
| author_facet | Samsudin, Intan Nureslyna Ariffin, Afiqah Lai, Yin Ye Chellappah Thambiah, Subashini Tengku Yazid, Tengku Norita |
| author_sort | Samsudin, Intan Nureslyna |
| building | UPM Institutional Repository |
| collection | Online Access |
| description | Severe hyperammonemia, if untreated, rapidly leads to encephalopathy, cerebral oedema, and death. It can result from inherited or acquired disorders. A full-term baby boy, with Apgar score of 9, was intubated for transient tachypnoea of the newborn (TTN) at 30 minutes of life. He was extubated at 21 hours, began formula feeding, but developed seizures and respiratory distress 41 hours later, necessitating reintubation. Immediate investigations following the seizures revealed markedly elevated plasma ammonia (2796 μmol/L), respiratory alkalosis, hypocalcaemia and deranged coagulation profiles. Plasma amino acid analysis showed raised glutamine and alanine with undetectable citrulline levels; urine organic acid analysis revealed increased orotic acid, consistent with ornithine transcarbamylase (OTC) deficiency (OTCD). Unfortunately, he developed cerebral edema and succumbed at 91 hours of life. This case report highlights the importance of clinical and biochemical suspicion of OTCD, an X-linked disorder that results in severe hyperammonaemia for early recognition and management of OTCD. |
| first_indexed | 2025-11-15T14:37:19Z |
| format | Article |
| id | upm-118329 |
| institution | Universiti Putra Malaysia |
| institution_category | Local University |
| language | English |
| last_indexed | 2025-11-15T14:37:19Z |
| publishDate | 2024 |
| publisher | Faculty of Medicine and Health Sciences, Universiti Putra Malaysia |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | upm-1183292025-07-07T07:43:23Z http://psasir.upm.edu.my/id/eprint/118329/ Neonatal-onset of ornithine transcarbamylase deficiency: a case of severe hyperammonaemia Samsudin, Intan Nureslyna Ariffin, Afiqah Lai, Yin Ye Chellappah Thambiah, Subashini Tengku Yazid, Tengku Norita Severe hyperammonemia, if untreated, rapidly leads to encephalopathy, cerebral oedema, and death. It can result from inherited or acquired disorders. A full-term baby boy, with Apgar score of 9, was intubated for transient tachypnoea of the newborn (TTN) at 30 minutes of life. He was extubated at 21 hours, began formula feeding, but developed seizures and respiratory distress 41 hours later, necessitating reintubation. Immediate investigations following the seizures revealed markedly elevated plasma ammonia (2796 μmol/L), respiratory alkalosis, hypocalcaemia and deranged coagulation profiles. Plasma amino acid analysis showed raised glutamine and alanine with undetectable citrulline levels; urine organic acid analysis revealed increased orotic acid, consistent with ornithine transcarbamylase (OTC) deficiency (OTCD). Unfortunately, he developed cerebral edema and succumbed at 91 hours of life. This case report highlights the importance of clinical and biochemical suspicion of OTCD, an X-linked disorder that results in severe hyperammonaemia for early recognition and management of OTCD. Faculty of Medicine and Health Sciences, Universiti Putra Malaysia 2024 Article PeerReviewed text en cc_by_4 http://psasir.upm.edu.my/id/eprint/118329/1/118329.pdf Samsudin, Intan Nureslyna and Ariffin, Afiqah and Lai, Yin Ye and Chellappah Thambiah, Subashini and Tengku Yazid, Tengku Norita (2024) Neonatal-onset of ornithine transcarbamylase deficiency: a case of severe hyperammonaemia. Malaysian Journal of Medicine and Health Sciences, 20 (suppl.11). pp. 81-83. ISSN 1675-8544 https://medic.upm.edu.my/upload/dokumen/2024123018275514_MJMHS_1075.pdf |
| spellingShingle | Samsudin, Intan Nureslyna Ariffin, Afiqah Lai, Yin Ye Chellappah Thambiah, Subashini Tengku Yazid, Tengku Norita Neonatal-onset of ornithine transcarbamylase deficiency: a case of severe hyperammonaemia |
| title | Neonatal-onset of ornithine transcarbamylase deficiency: a case of severe hyperammonaemia |
| title_full | Neonatal-onset of ornithine transcarbamylase deficiency: a case of severe hyperammonaemia |
| title_fullStr | Neonatal-onset of ornithine transcarbamylase deficiency: a case of severe hyperammonaemia |
| title_full_unstemmed | Neonatal-onset of ornithine transcarbamylase deficiency: a case of severe hyperammonaemia |
| title_short | Neonatal-onset of ornithine transcarbamylase deficiency: a case of severe hyperammonaemia |
| title_sort | neonatal-onset of ornithine transcarbamylase deficiency: a case of severe hyperammonaemia |
| url | http://psasir.upm.edu.my/id/eprint/118329/ http://psasir.upm.edu.my/id/eprint/118329/ http://psasir.upm.edu.my/id/eprint/118329/1/118329.pdf |