title: Low citrulline may not be diagnostic of ornithine transcarbamylase deficiency: a case report.
abstract: 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.
authors.affiliation: Western Sydney Genetics Program, Children's Hospital at Westmead, Locked Bag 4001, Westmead, NSW, 2145, Australia.
authors.forename: M A
authors.initials: MA
authors.lastname: Chiong
authors.forename: K
authors.initials: K
authors.lastname: Carpenter
authors.forename: J
authors.initials: J
authors.lastname: Christodoulou
mesh_terms: D002956:Citrulline / Q000097:blood*; D003937:Diagnosis, Differential; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000097:blood* / Q000175:diagnosis* / Q000235:genetics
chemical_list: D002956:Citrulline