Urea cycle disorders: management
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Urea cycle disorders: management. Unexplained change in consciousness, Unusual neurological illness, Liver failure. Fully referenced neurology checklist.
First line tests: plasma ammonia: indications
- Unexplained change in consciousness
- Unusual neurological illness
- Liver failure
- Suspected intoxication
First line tests: if plasma ammonia is elevated
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Other investigations
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Acute treatment
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Chronic treatment
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Precautions
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References
- Häberle J, Boddaert N, Burlina A, et al. Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J Rare Dis 2012; 7:32.
- 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.
- Seminara J, Tuchman M, Krivitzky L, et al. Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium. Mol Genet Metab 2010; 100(Suppl 1):S97-S105.
- Imbard A, Bouchereau J, Arnoux JB, et al. Citrulline in the management of patients with urea cycle disorders. Orphanet J Rare Dis 2023; 18:207.
- García Vega M, Andrade JD, Morais A, et al. Urea cycle disorders and indications for liver transplantation. Front Pediatr 2023; 11:1103757.
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