Urea cycle disorders: clinical features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Urea cycle disorders: clinical features. Argininaemia: arginase deficiency (ARG1D), Citrullinemia type II. Fully referenced neurology checklist.
Types of urea cycle disorders
- Argininaemia: arginase deficiency (ARG1D)
- Argininosucciniaciduria: argininosuccinase acid lyase deficiency (ASLD)
- Citrullineamia type I: argininosuccinic acid synthase deficiency (ASSD)
- Citrullinemia type II
- HHH syndrome: hyperornithinemia, hyperammonemia, homocitrullinuria
- Carbamyl phosphate synthase I deficiency (CPS1D)
- Ornithine transcarbamylase deficiency (OTCD)
- N-acetylglutamate synthase deficiency (NAGSD)
Onset features
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Acute encephalopathic features
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Chronic features
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Differential diagnosis
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Poor prognostic features
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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.
- 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.
- Lopes FF, Sitta A, de Moura Coelho D, et al. Clinical findings of patients with hyperammonemia affected by urea cycle disorders with hepatic encephalopathy. Int J Dev Neurosci 2022; 82:772-788.
