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Hereditary urea cycle abnormality


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Hereditary urea cycle abnormality

Alternative Names:

Abnormality of the urea cycle - hereditary; Urea cycle - hereditary abnormality
Symptoms:
  • disliking protein-containing foods
  • decreased food intake
  • nausea, vomitting
  • change in clarity of mind, confusion
  • increased sleepiness, difficulty arousing person
  • coma

Signs and tests:
  • elevated blood ammonia level
  • abnormal pattern of blood and urine amino acids
  • abnormal level of orotic acid in blood or urine
  • normal level of acid in blood
  • low level of enzyme activity in liver biopsy
  • abnormal genetic test result, mutation(s) present in one of the genes for the proteins of the urea cycle
  • MRI or CT scan may show swelling of brain
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