Hepatocellular Adenoma in a Patient with Ornithine Transcarbamylase Deficiency

Overview

Journal Case Reports Hepatol

Publisher Wiley

Specialty Gastroenterology

Date 2019 Oct 31

PMID 31662921

Citations 4

Authors

Lin Cheng

Yajuan Liu

Wenjing Wang

J L Merritt

Matthew Yeh

Affiliations

Soon will be listed here.

Abstract

Ornithine transcarbamylase (OTC) deficiency is an X-linked recessive disorder that leads to hyperammonemia and liver damage. Hepatocellular adenoma in OTC deficiency patients has not been previously described. Here we report the first such case to be described in the English language scientific literature.

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References

Schmidt M, Gil-Farina I, Buning H . Reply to "Wild-type AAV Insertions in Hepatocellular Carcinoma Do Not Inform Debate Over Genotoxicity Risk of Vectorized AAV". Mol Ther. 2016; 24(4):661-2. PMC: 4886948. DOI: 10.1038/mt.2016.48. View

Nault J, Couchy G, Balabaud C, Morcrette G, Caruso S, Blanc J . Molecular Classification of Hepatocellular Adenoma Associates With Risk Factors, Bleeding, and Malignant Transformation. Gastroenterology. 2016; 152(4):880-894.e6. DOI: 10.1053/j.gastro.2016.11.042. View

Fonseca S, Hoton D, Dardenne S, Annet L, Hubert C, Godecharles S . Histological and immunohistochemical revision of hepatocellular adenomas: a learning experience. Int J Hepatol. 2013; 2013:398308. PMC: 3603421. DOI: 10.1155/2013/398308. View

Miles L, Heubi J, Bove K . Hepatocyte glycogen accumulation in patients undergoing dietary management of urea cycle defects mimics storage disease. J Pediatr Gastroenterol Nutr. 2005; 40(4):471-6. DOI: 10.1097/01.mpg.0000157200.33486.ce. View

Longerich T, Endris V, Neumann O, Rempel E, Kirchner M, Abadi Z . gene rearrangement: a powerful driver of β-catenin activation in liver tumours. Gut. 2019; 68(7):1287-1296. DOI: 10.1136/gutjnl-2018-317632. View

Wilson J . Lessons learned from the gene therapy trial for ornithine transcarbamylase deficiency. Mol Genet Metab. 2009; 96(4):151-7. DOI: 10.1016/j.ymgme.2008.12.016. View

Nault J, Mami I, La Bella T, Datta S, Imbeaud S, Franconi A . Wild-type AAV Insertions in Hepatocellular Carcinoma Do Not Inform Debate Over Genotoxicity Risk of Vectorized AAV. Mol Ther. 2016; 24(4):660-1. PMC: 4886947. DOI: 10.1038/mt.2016.47. View

Mustafa A, Clarke J . Ornithine transcarbamoylase deficiency presenting with acute liver failure. J Inherit Metab Dis. 2006; 29(4):586. DOI: 10.1007/s10545-006-0303-2. View

Reintoft I, Hagerstrand I . Demonstration of alpha 1-antitrypsin in hepatomas. Arch Pathol Lab Med. 1979; 103(10):495-8. View

10.

Caldovic L, Abdikarim I, Narain S, Tuchman M, Morizono H . Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update. J Genet Genomics. 2015; 42(5):181-94. PMC: 4565140. DOI: 10.1016/j.jgg.2015.04.003. View

11.

Bioulac-Sage P, Cubel G, Balabaud C, Zucman-Rossi J . Revisiting the pathology of resected benign hepatocellular nodules using new immunohistochemical markers. Semin Liver Dis. 2011; 31(1):91-103. DOI: 10.1055/s-0031-1272837. View

12.

Barthelmes L, Tait I . Liver cell adenoma and liver cell adenomatosis. HPB (Oxford). 2008; 7(3):186-96. PMC: 2023950. DOI: 10.1080/13651820510028954. View

13.

Yorifuji T, Muroi J, Uematsu A, Tanaka K, Kiwaki K, Endo F . X-inactivation pattern in the liver of a manifesting female with ornithine transcarbamylase (OTC) deficiency. Clin Genet. 1998; 54(4):349-53. DOI: 10.1034/j.1399-0004.1998.5440415.x. View

14.

Yaplito-Lee J, Chow C, Boneh A . Histopathological findings in livers of patients with urea cycle disorders. Mol Genet Metab. 2013; 108(3):161-5. DOI: 10.1016/j.ymgme.2013.01.006. View

15.

Kinne-Saffran E, Kinne R . Vitalism and synthesis of urea. From Friedrich Wöhler to Hans A. Krebs. Am J Nephrol. 1999; 19(2):290-4. DOI: 10.1159/000013463. View

16.

Erez A, Shchelochkov O, Plon S, Scaglia F, Lee B . Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism. Am J Hum Genet. 2011; 88(4):402-21. PMC: 3071916. DOI: 10.1016/j.ajhg.2011.03.005. View

17.

Graziadei I, Joseph J, Wiesner R, Therneau T, Batts K, Porayko M . Increased risk of chronic liver failure in adults with heterozygous alpha1-antitrypsin deficiency. Hepatology. 1998; 28(4):1058-63. DOI: 10.1002/hep.510280421. View

18.

Henriet E, Abou Hammoud A, Dupuy J, Dartigues B, Ezzoukry Z, Dugot-Senant N . Argininosuccinate synthase 1 (ASS1): A marker of unclassified hepatocellular adenoma and high bleeding risk. Hepatology. 2017; 66(6):2016-2028. DOI: 10.1002/hep.29336. View

19.

Gallagher R, Lam C, Wong D, Cederbaum S, Sokol R . Significant hepatic involvement in patients with ornithine transcarbamylase deficiency. J Pediatr. 2014; 164(4):720-725.e6. PMC: 4070427. DOI: 10.1016/j.jpeds.2013.12.024. View

20.

Zucman-Rossi J, Jeannot E, Tran Van Nhieu J, Scoazec J, Guettier C, Rebouissou S . Genotype-phenotype correlation in hepatocellular adenoma: new classification and relationship with HCC. Hepatology. 2006; 43(3):515-24. DOI: 10.1002/hep.21068. View