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Review

Urea Cycle Disorders Overview

Kara L Simpson  1 , Erin L MacLeod  1 , Aadil Kakajiwala  2 , Andrea L Gropman  3 , Nicholas Ah Mew  1
Margaret P Adam, Jerry Feldman, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Anne Amemiya
, editors.
In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.
[updated ].
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Free Books & Documents
Review

Urea Cycle Disorders Overview

Kara L Simpson et al.
Free Books & Documents

Excerpt

The purpose of this overview is to:

  1. 1

    Briefly describe the clinical characteristics of urea cycle disorders;

  2. 2

    Review the genetic causes of urea cycle disorders;

  3. 3

    Review the differential diagnosis of urea cycle disorders with a focus on genetic conditions;

  4. 4

    Provide an evaluation strategy to identify the genetic cause of a urea cycle disorder in a proband (when possible);

  5. 5

    Review management of hyperammonemia and urea cycle disorders;

  6. 6

    Inform genetic counseling of family members of an individual with a urea cycle disorder and evaluation of a newborn at risk for a urea cycle disorder.

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References

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    1. Alsharhan H, Alharbi H, Priestley J, Ganetzky R, He M. Urinary uracil: a useful marker for ornithine transcarbamylase deficiency in affected males. Clin Chem. 2020;66:988-9. - PMC - PubMed
    1. Bigot A, Tchan MC, Thoreau B, Blasco H, Maillot F. Liver involvement in urea cycle disorders: a review of the literature. J Inherit Metab Dis. 2017;40:757-69. - PubMed
    1. Braissant O, McLin VA, Cudalbu C. Ammonia toxicity to the brain. J Inherit Metab Dis. 2013;36:595-612. - PubMed
    1. Burlina A, Gasperini S, la Marca G, Pession A, Siri B, Spada M, Ruoppolo M, Tummolo A. Long-term management of patients with mild urea cycle disorders identified through the newborn screening: an expert opinion for clinical practice. Nutrients. 2023;16:13. - PMC - PubMed