Abstract | INTRODUCTION: 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.
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Authors | Eric T Rush, Julianne E Hartmann, Jill C Skrabal, William B Rizzo |
Journal | SAGE open medical case reports
(SAGE Open Med Case Rep)
Vol. 2
Pg. 2050313X14546348
( 2014)
ISSN: 2050-313X [Print] England |
PMID | 27489649
(Publication Type: Case Reports)
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