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Low citrulline may not be diagnostic of ornithine transcarbamylase deficiency: A case report
Author(s) -
Chiong M. A.,
Carpenter K.,
Christodoulou J.
Publication year - 2007
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-007-0495-0
Subject(s) - citrulline , ornithine transcarbamylase deficiency , ornithine transcarbamylase , orotic acid , medicine , hyperammonemia , glutamine , ornithine carbamoyltransferase , urea cycle , pediatrics , genetic testing , endocrinology , ornithine , physiology , arginine , biochemistry , biology , amino acid
Summary A newborn boy with family history of severe ornithine transcarbamylase (OTC) deficiency was investigated prospectively and managed aggressively at birth based on an existing protocol for at risk neonates. Undetectable citrulline levels at birth suggested that the infant was affected; however, normal plasma glutamine and urine orotic acid levels confused the diagnosis to some extent. Mutation testing confirmed that the patient did not have OTC deficiency. Thus the low plasma citrulline level did not validate our initial biochemical suspicion of OTC deficiency, and this highlights the importance of considering all available clinical, biochemical and molecular evidence in determining disease status.