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...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SAGE Publishing
2014-07-01
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| Series: | SAGE Open Medical Case Reports |
| Online Access: | https://doi.org/10.1177/2050313X14546348 |