Acute liver dysfunction with delayed peak of serum aminotransferase levels as a presentation of ornithine transcarbamylase deficiency in females

Clarkston, K., Lee, J., Donoghue, S., Peters, H., Eiroa, H., Shah, A. A., Loomes, K., Wen, J., Oliver, M., Hardikar, W., Prada, C. E., & Asai, A.

Am J Med Genet A. 2021 Mar 1; 185(3):909-915


We describe 10 females with ornithine transcarbamylase (OTC) deficiency and liver dysfunction, revealing a unique pattern of hepatocyte injury in which initial hyperammonemia and coagulopathy is followed by a delayed peak in aminotransferase levels. None of the patients required urgent liver transplantation, though five eventually underwent transplant for recurrent metabolic crises. We intend that this novel observation will initiate further investigations into the pathophysiology of liver dysfunction in OTC-deficient patients, and ultimately lead to the development of therapies and prevent the need for liver transplant.

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