A complex case of delayed diagnosis of ornithine transcarbamylase deficiency in an adult patient with multiple comorbidities

We report the case of a medically complex African American adult female with ornithine transcarbamylase (OTC) deficiency diagnosed after lifelong protein aversion and new onset of chronic vomiting and abdominal pain with intermittent lethargy and confusion. Symptomatology was crucial to diagnosis as...

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Bibliografiske detaljer

Principais autores:	Jessica Abbott, Mia Senzatimore, Paldeep Atwal
Format:	Artigo
Sprog:	Inglês
Udgivet:	Elsevier 2022-12-01
Serier:	Molecular Genetics and Metabolism Reports
Fag:	Ornithine transcarbamylase deficiency Urea cycle disorder Hepatic encephalopathy Comorbid conditions X-linked inheritance Late onset
Online adgang:	http://www.sciencedirect.com/science/article/pii/S2214426922000763
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