Late-onset ornithine transcarbamylase deficiency: An under recognized cause of metabolic encephalopathy
Introduction: Ornithine transcarbamylase deficiency is the most common inherited disorder of the urea cycle, has a variable phenotype, and is caused by mutations in the OTC gene. We report three cases of ornithine transcarbamylase deficiency to illustrate the late-onset presentation of this disorder...
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Online Access: | https://doi.org/10.1177/2050313X14546348 |
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doaj-2d5c657000b143cc8c4d9db858c55ca52020-11-25T03:00:58ZengSAGE PublishingSAGE Open Medical Case Reports2050-313X2014-07-01210.1177/2050313X1454634810.1177_2050313X14546348Late-onset ornithine transcarbamylase deficiency: An under recognized cause of metabolic encephalopathyEric T Rush0Julianne E Hartmann1Jill C Skrabal2William B Rizzo3Department of Pediatrics, University of Nebraska Medical Center, Omaha, NE, USAMunroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, NE, USADepartment of Pediatrics, University of Nebraska Medical Center, Omaha, NE, USADepartment of Pediatrics, University of Nebraska Medical Center, Omaha, NE, USAIntroduction: Ornithine transcarbamylase deficiency is the most common inherited disorder of the urea cycle, has a variable phenotype, and is caused by mutations in the OTC gene. We report three cases of ornithine transcarbamylase deficiency to illustrate the late-onset presentation of this disorder and provide strategies for diagnosis and treatment. The patients were maternal first cousins, presenting with hyperammonemia and obtundation. Urea cycle disorder was not initially suspected in the first patient, delaying diagnosis. Results: Sequencing of the OTC gene showed a novel missense mutation, c.563G > C (p.G188A). Numerous family members were found to carry this mutation, which shows a trend toward later onset. Each urea cycle disorder has its own unique pattern of biochemical abnormalities, which differ from non-metabolic causes of critical illness. Conclusion: Regardless of age, clinical suspicion of a urea cycle disorder is important in encephalopathic patients to ensure quick diagnosis and definitive treatment of the underlying inborn error of metabolism.https://doi.org/10.1177/2050313X14546348 |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Eric T Rush Julianne E Hartmann Jill C Skrabal William B Rizzo |
spellingShingle |
Eric T Rush Julianne E Hartmann Jill C Skrabal William B Rizzo Late-onset ornithine transcarbamylase deficiency: An under recognized cause of metabolic encephalopathy SAGE Open Medical Case Reports |
author_facet |
Eric T Rush Julianne E Hartmann Jill C Skrabal William B Rizzo |
author_sort |
Eric T Rush |
title |
Late-onset ornithine transcarbamylase deficiency: An under recognized cause of metabolic encephalopathy |
title_short |
Late-onset ornithine transcarbamylase deficiency: An under recognized cause of metabolic encephalopathy |
title_full |
Late-onset ornithine transcarbamylase deficiency: An under recognized cause of metabolic encephalopathy |
title_fullStr |
Late-onset ornithine transcarbamylase deficiency: An under recognized cause of metabolic encephalopathy |
title_full_unstemmed |
Late-onset ornithine transcarbamylase deficiency: An under recognized cause of metabolic encephalopathy |
title_sort |
late-onset ornithine transcarbamylase deficiency: an under recognized cause of metabolic encephalopathy |
publisher |
SAGE Publishing |
series |
SAGE Open Medical Case Reports |
issn |
2050-313X |
publishDate |
2014-07-01 |
description |
Introduction: Ornithine transcarbamylase deficiency is the most common inherited disorder of the urea cycle, has a variable phenotype, and is caused by mutations in the OTC gene. We report three cases of ornithine transcarbamylase deficiency to illustrate the late-onset presentation of this disorder and provide strategies for diagnosis and treatment. The patients were maternal first cousins, presenting with hyperammonemia and obtundation. Urea cycle disorder was not initially suspected in the first patient, delaying diagnosis. Results: Sequencing of the OTC gene showed a novel missense mutation, c.563G > C (p.G188A). Numerous family members were found to carry this mutation, which shows a trend toward later onset. Each urea cycle disorder has its own unique pattern of biochemical abnormalities, which differ from non-metabolic causes of critical illness. Conclusion: Regardless of age, clinical suspicion of a urea cycle disorder is important in encephalopathic patients to ensure quick diagnosis and definitive treatment of the underlying inborn error of metabolism. |
url |
https://doi.org/10.1177/2050313X14546348 |
work_keys_str_mv |
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