Ornithine transcarbamylase deficiency (OTCD): investigations
Evidence-based neurology checklist on ornithine transcarbamylase deficiency (otcd): investigations: Serum tests High levels: lactate, ammonia, glutamine, and alanine Low levels: citrulline and glucose Arterial pH: alkalosis Magnetic resonance imaging (MRI) brain Other tests
Serum tests
- High levels: lactate, ammonia, glutamine, and alanine
- Low levels: citrulline and glucose
- Arterial pH: alkalosis
Magnetic resonance imaging (MRI) brain
Other tests
References
- Blair NF, Cremer PD, Tchan MC. Urea cycle disorders: a life-threatening yet treatable cause of metabolic encephalopathy in adults. Pract Neurol 2015; 15:45-48.
- Oechsner M, Steen C, Stürenburg HJ, Kohlschütter A. Hyperammonaemic encephalopathy after initiation of valproate therapy in unrecognised ornithine transcarbamylase deficiency. JNNP 1998; 64:680-682.
- Cartagena A, Prasad AN, Rupar CA, et al. Recurrent encephalopathy: NAGS (N-acetylglutamate synthase) deficiency in adults. Can J Neurol Sci 2013; 40:3-9.
- Takanashi J, Barkovich AJ, Cheng SF, Kostiner D, Baker JC, Packman S. Brain MR imaging in acute hyperammonemic encephalopathy arising from late-onset ornithine transcarbamylase deficiency. AJNR 2003; 24:390-393.
- Lamb S, Aye CY, Murphy E, Mackillop L. Multidisciplinary management of ornithine transcarbamylase (OTC) deficiency in pregnancy: essential to prevent hyperammonemic complications. BMJ Case Rep 2013; 2013: bcr2012007416.
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