Ornithine transcarbamylase deficiency (OTCD): clinical features
Evidence-based neurology checklist on ornithine transcarbamylase deficiency (otcd): clinical features: Genetics and pathology OTC deficiency is the most frequent urea cycle disorder The transmission is X-linked It usually affects males Female heterozygotes may be symptomatic The onset is usually…
Genetics and pathology
- OTC deficiency is the most frequent urea cycle disorder
- The transmission is X-linked
- It usually affects males
- Female heterozygotes may be symptomatic
- The onset is usually in infancy
Clinical features
Triggers of hyperammonemic crises
Poor prognostic features
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.
- Beddoes P, Nerone G, Tai C. Status epilepticus secondary to hyperammonaemia: a late presentation of an undiagnosed urea cycle defect. BMJ Case Rep 2021; 14:e238023.
- Bogdanovic MD, Kidd D, Briddon A, Duncan JS, Land JM. Late onset heterozygous ornithine transcarbamylase deficiency mimicking complex partial status epilepticus. JNNP 2000; 69:813-815.
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