Advertisement

Liver Diseases pp 107-116 | Cite as

Acquired Metabolic Disorders

  • Ivanesa L. Pardo Lameda
  • Timothy R. KochEmail author
Chapter

Abstract

The liver is a complex and critically important organ involved in both the biosynthesis of as well as the metabolism of numerous biochemical products. Acquired metabolic liver disorders result from the loss of this hepatic homeostasis. It is thought that the first recognition of a metabolic liver disorder was the description of porphyria by Hippocrates. The focus of this chapter is the potential origins for, diagnosis of, and treatment of acquired metabolic liver disorders, which include ornithine transcarbamylase deficiency, porphyria, hemochromatosis, and alpha 1 antitrypsin deficiency. Origins for acquired metabolic liver disorders include bariatric surgery with regards to ornithine transcarbamylase deficiency, organic chemical exposure with regards to porphyria, alcohol use/repeated blood transfusions/excessive oral iron supplements/hepatitis C with regards to hemochromatosis, and infectious Tropical Pulmonary Eosinophilia with regards to alpha 1 antitrypsin deficiency. Wilson disease is an additional, important genetic metabolic liver disease. In future work, pathophysiological mechanisms of disease and preventing the development of acquired metabolic liver disorders remain areas of focus for clinical research in this field.

Keywords

Metabolic disease Ornithine transcarbamylase deficiency Hemochromatosis Porphyria Wilson disease Alpha 1 antitrypsin deficiency 

References

  1. 1.
    Häberle J, Boddaert N, Burlina A, Chakrapani A, Dixon M, Huemer M, Karall D, Martinelli D, Crespo PS, Santer R, Servais A, Valayannopoulos V, Linder M, Rubio V, Dionisi-Vici C. Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J Rare Dis. 2012;7:32.CrossRefGoogle Scholar
  2. 2.
    Brassier A, Gobin S, Arnoux JB, Valayannopoulos V, Habarou F, Kossorotoff M, Servais A, Barbier V, Dubois S, Touati G, Barouki R, Lesage F, Dupic L, Bonnefont JP, Ottolenghi C, De Lonlay P. Long-term outcomes in ornithine transcarbamylase deficiency: a series of 90 patients. Orphanet J Rare Dis. 2015;10:58.  https://doi.org/10.1186/s13023-015-0266-1.CrossRefPubMedPubMedCentralGoogle Scholar
  3. 3.
    Acharya G, Mehra S, Patel R, Frunza-Stefan S, Kaur H. Fatal non hepatic hyperammonemia in ICU setting: a rare but serious complication following bariatric surgery. Case Rep Crit Care. 2016;2016:8531591.PubMedPubMedCentralGoogle Scholar
  4. 4.
    Becker D, Balcer L, Galetta S. The neurological complications of nutritional deficiency following bariatric surgery. J Obes. 2012;2012:608534.  https://doi.org/10.1155/2012/608534.CrossRefPubMedPubMedCentralGoogle Scholar
  5. 5.
    Fenves A, Shchelochkov O, Mehta A. Hyperammonemic syndrome after Roux-en-Y gastric bypass. Obesity. 2015;23(4):746–9.CrossRefGoogle Scholar
  6. 6.
    Kromas ML, Mousa OY, John S. Hyperammonemia-induced encephalopathy: a rare devastating complication of bariatric surgery. World J Hepatol. 2015;7(7):1007–11.CrossRefGoogle Scholar
  7. 7.
    Bissell DM, Anderson KE, Bonkovsky HL. Porphyria. N Engl J Med. 2017;377(9):862–72.CrossRefGoogle Scholar
  8. 8.
    Stein P, Badminton M, Barth J, Rees D, Stewart MF, British and Irish Porphyria Network. Best practice guidelines on clinical management of acute attacks of porphyria and their complications. Ann Clin Biochem. 2013;50(Pt 3):217–23.CrossRefGoogle Scholar
  9. 9.
    Balwani M, Wang B, Anderson KE, Bloomer JR, Bissell DM, Bonkovsky HL, Phillips JD, Desnick RJ, Porphyrias Consortium of the Rare Diseases Clinical Research Network. Acute hepatic porphyrias: recommendations for evaluation and long-term management. Hepatology. 2017;66(4):1314–22.CrossRefGoogle Scholar
  10. 10.
    Smith AG, Foster JR. The association between chemical-induced porphyria and hepatic cancer. Toxicol Res (Camb). 2018;7(4):647–63.CrossRefGoogle Scholar
  11. 11.
    Salameh H, Sarairah H, Rizwan M, Kuo YF, Anderson KE, Singal AK. Relapse of porphyria cutanea tarda after treatment with phlebotomy or 4-aminoquinoline antimalarials: a meta-analysis. Br J Dermatol. 2018.  https://doi.org/10.1111/bjd.16741.CrossRefGoogle Scholar
  12. 12.
    Ulvik RJ. Hereditary haemochromatosis through 150 years. Tidsskr Nor Laegeforen. 2016;136(23–24):2017–21.CrossRefGoogle Scholar
  13. 13.
    Zou D-M, Sun W-L. Relationship between hepatitis C virus infection and iron overload. Chin Med J. 2017;130(7):866–71.CrossRefGoogle Scholar
  14. 14.
    Golfeyz S, Lewis S, Weisberg IS. Hemochromatosis: pathophysiology, evaluation, and management of hepatic iron overload with a focus on MRI. Expert Rev Gastroenterol Hepatol. 2018;12(8):767–78.CrossRefGoogle Scholar
  15. 15.
    Rostoker G, Vaziri ND. Iatrogenic iron overload and its potential consequences in patients on hemodialysis. Presse Med. 2017;46(12 Pt 2):e312–28.CrossRefGoogle Scholar
  16. 16.
    Townsend SA, Edgar RG, Ellis PR, Kantas D, Newsome PN, Turner AM. Systematic review: the natural history of alpha-1 antitrypsin deficiency, and associated liver disease. Aliment Pharmacol Ther. 2018;47(7):877–85.CrossRefGoogle Scholar
  17. 17.
    Mitchell EL, Khan Z. Liver disease in alpha-1 antitrypsin deficiency: current approaches and future directions. Curr Pathobiol Rep. 2017;5(3):243–52.CrossRefGoogle Scholar
  18. 18.
    Renjen PN, Khanna L, Rastogi R, Khan NI. Acquired hepatocerebral degeneration. BMJ Case Rep. 2013.  https://doi.org/10.1136/bcr-2013-009387. pii: bcr2013009387.Google Scholar
  19. 19.
    Li H, Liu L, Li Y, He S, Liu Y, Li J, Tao R, Li W, Shang S. Familial screening of children with Wilson disease: necessity of screening in previous generation and screening methods. Medicine. 2018 Jul;97(27):e11405.  https://doi.org/10.1097/MD.0000000000011405.CrossRefPubMedPubMedCentralGoogle Scholar
  20. 20.
    Ferenci P, Czlonkowska A, Stremmel W, Houwen R, Rosenberg W, Schilsky M, Jansen P, Moradpour D, the European Association for Study of Liver. EASL clinical practice guidelines: Wilson’s disease. J Hepatol. 2012;56(3):671–85.CrossRefGoogle Scholar
  21. 21.
    Santiago R, Gottrand F, Debray D, et al. Zinc therapy for Wilson disease in children in French pediatric centers. J Pediatr Gastroenterol Nutr. 2015;61(6):613–8.CrossRefGoogle Scholar

Further Readings

    Ornithine Transcarbamylase Deficiency

    1. Russell A, Levin B, Oberholzer VG, Sinclair L. Hyperammonemia. A new instance of an inborn enzymatic defect of the biosynthesis of urea. Lancet. 1962;2(7258):699–700.CrossRefGoogle Scholar
    2. Chikwava K, Finegold D. Final diagnosis-partial ornithine transcarbamylase (OTC) deficiency. Case presentation at UPMC pathology: Case. p. 335.Google Scholar
    3. Hu WT, Kantarci OH, Merritt JL, McGrann P, Dyck PJB, Lucchinetti CF, Tippmann-Peikert M. Ornithine transcarbamylase deficiency presenting as encephalopathy during adulthood following bariatric surgery. Arch Neurol. 2007;64(1):126–8.CrossRefGoogle Scholar
    4. Levy H, Picker J. New England Consortium of Metabolic Programs. Ornithine transcarbamylase deficiency (OTC deficiency). Google Scholar
    5. Gyato K, Wray J, Huang ZJ, Yudkoff M, Batshaw M. Metabolic and Neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiency. Ann Neurol. 2004;55:80–6.CrossRefGoogle Scholar

    Porphyria

    1. Downey DC. Porphyria and chemicals. Med Hypotheses. 1999;53(2):166–71.CrossRefGoogle Scholar
    2. Jarrell JF, Gocmen A, Akyol D, Brant R. Hexachlorobenzene exposure and the proportion of male births in Turkey 1935-1990. Reprod Toxicol. 2002;16(1):65–70.CrossRefGoogle Scholar

    Hemochromatosis

    1. Moyer TP, Highsmith WE, Smyrk TC, Gross JB Jr. Hereditary hemochromatosis: laboratory evaluation. Clin Chim Acta. 2011;412(17, 18):1485–92.CrossRefGoogle Scholar
    2. Gattermann N. The treatment of secondary hemochromatosis. Deutsches Ärzteblatt Int. 2009;106(30):499–504.Google Scholar
    3. Bacon BR, Adams PC, Kowdley KV, Powell LW, Tavill AS. Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases. Hepatology. 2011;54(1):328–43.CrossRefGoogle Scholar

    Alpha 1 Antitrypsin Deficiency

    1. Ray D, Harikrishna S, Immanuel C, Victor L, Subramanyam S, Kumaraswami V. Acquired alpha 1-antitrypsin deficiency in tropical pulmonary eosinophilia. Indian J Med Res. 2011;134:79–82.PubMedPubMedCentralGoogle Scholar

Copyright information

© Springer Nature Switzerland AG 2020

Authors and Affiliations

  1. 1.Center for Advanced Laparoscopic General & Bariatric SurgeryWashington, DCUSA
  2. 2.MedStar Washington Hospital Center and Georgetown University School of MedicineWashington, DCUSA

Personalised recommendations