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Signs and Symptoms Urea Cycle Disorder Signs and Symptoms

Signs and symptoms of urea cycle disorders (UCDs) can vary from person to person.

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Physical symptoms1:

  • Fatigue
  • Headaches
  • Vomiting
  • Poor appetite
  • Protein aversion
  • Diplegia
  • Slow growth
  • Tremors
  • Seizures
  • Ataxia
  • Vision loss
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Cognitive/behavioral symptoms1-3:

  • Mood swings
  • Attention problems
  • Learning disabilities
  • Hallucinations
  • Personality changes
  • Aggression
The wide range of nonspecific symptoms makes identifying a UCD challenging. If a UCD is suspected, a specialist may be able to help make a diagnosis.

Other clinical signs of UCDs include high ammonia levels and elevated glutamine, urinary orotic acid, citrulline, and alanine aminotransferase biomarkers. High ammonia levels can result in a wide range of effects including hyperammonemic encephalopathy, which can lead to coma and death.1

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High Ammonia Levels and Their Effects

Take a closer look at the impact of high ammonia levels

Learn About the Effects
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  • References

    1. Häberle J, Burlina A, Chakrapani A, et al. Suggested guidelines for the diagnosis and management of urea cycle disorders: first revision. J Inherit Metab Dis. 2019;42(6):1192-1230. 2. Gardeitchik T, Humphrey M, Nation J, Boneh A. Early clinical manifestations and eating patterns in patients with urea cycle disorders. J Pediatr. 2012;161(2):328-332. 3. Krivitzky L, Babikian T, Lee HS, Thomas NH, Burk-Paull KL, Batshaw ML. Intellectual, adaptive, and behavioral functioning in children with urea cycle disorders. Pediatr Res. 2009;66(1):96-101.