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Genetic and Rare Diseases Information Center (GARD)

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Adult-onset citrullinemia type II

Other Names for this Disease
  • Adult-onset citrullinemia type 2
  • Citrin deficiency
  • Citrullinemia type 2
  • Citrullinemia type II
  • CTLN2
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  • I have a patient with urine citrulline levels at twice the upper limit of normal. All other urinary amino acids were low-normal. This patient has legitimate complaints of decreased energy as well. Standard CPE labs were normal. What is the typical presentation of citrullinemia type II? How is it diagnosed? How is it treated? Who is conducting research into this condition. Click here for answer