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Anaesthesia and Rare Metabolic Disorders

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Anesthesia in High-Risk Patients
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Abstract

Metabolic disorders occur due to abnormal metabolic processes caused by an acquired failure of a metabolic organ or an inherited abnormality of enzymes [1]. The US National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD) currently lists 515 entities as metabolic disorders grouped into 18 subclasses (Table 13.1). Here, we discuss current approaches to evidence-based perioperative management of patients with rare metabolic disorders, i.e. those metabolic diseases with a prevalence/incidence as little as 1:200,000 or fewer [2]. Very rare diseases, or diseases for which prevalence/incidence is unknown, or which are only known to occur in members of a particular family, are regarded as very rare and are not covered. As well, we do not discuss diseases that have not been reported in the English language literature. Our goal is not to be comprehensive, but, rather, to provide a general overview of anaesthesia and rare metabolic disorders.

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References

  1. Nichols JJ. Stedman’s Medical Dictionary. 27th ed. Optom Vis Sci. 2000;77:284.

    Article  Google Scholar 

  2. Office of the Secretary, DoD. TRICARE; rare diseases definition. Final rule. Fed Regist. 2010;75:47458.

    Google Scholar 

  3. Hobson GM, Kamholz J. PLP1-related disorders. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews(R). Seattle (WA): University of Washington, Seattle University of Washington, Seattle. All rights reserved.; 1993.

    Google Scholar 

  4. Yamamoto T, Shimojima K. Pelizaeus-Merzbacher disease as a chromosomal disorder. Congenit Anom. 2013;53:3–8.

    Article  CAS  Google Scholar 

  5. Kamekura N, Nitta Y, Takuma S, Fujisawa T. General anesthesia for a patient with Pelizaeus-Merzbacher disease. Anesth Prog. 2016;63:91–4.

    Article  PubMed  PubMed Central  Google Scholar 

  6. Yamada T, Hamada H, Mochizuki S, Sutoh M, Tsuji M, Kawamoto M, Yuge O. General anesthesia for patient with type III homocystinuria (tetrahydrofolate reductase deficiency). J Clin Anesth. 2005;17:565–7.

    Google Scholar 

  7. Badner NH, Drader K, Freeman D, Spence JD. The use of intraoperative nitrous oxide leads to postoperative increases in plasma homocysteine. Anesth Analg. 1998;87(3):711.

    CAS  PubMed  Google Scholar 

  8. Nagele P, Tallchief D, Blood J, Sharma A, Kharasch ED. Nitrous oxide anesthesia and plasma homocysteine in adolescents. Anesth Analg. 2011;113:843–8.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  9. Selzer RR, Rosenblatt DS, Laxova R, Hogan K. Adverse effect of nitrous oxide in a child with 5,10-methylenetetrahydrofolate reductase deficiency. N Engl J Med. 2003;349:45–50.

    Article  PubMed  Google Scholar 

  10. Eschweiler G, Rosin R, Thier P, Giedke H. Postoperative psychosis in homocystinuria. Eur Psychiatry. 1997;12:98–101.

    Article  CAS  PubMed  Google Scholar 

  11. Aggarwal S, Verma S, Singh B, Kumar M. Hyperhomocysteinemia: anesthetic concerns. Saudi J Anaesth. 2014;8:143–4.

    Article  PubMed  PubMed Central  Google Scholar 

  12. Luzardo GE, Karlnoski RA, Williams B, Mangar D, Camporesi EM. Anesthetic management of a parturient with hyperhomocysteinemia. Anesth Analg. 2008;106(6):1833.

    Article  PubMed  Google Scholar 

  13. Lesch M, Nyhan WL. A familial disorder of uric acid metabolism and central nervous system function. Am J Med. 1964;36:561–70.

    Article  CAS  PubMed  Google Scholar 

  14. Larson LO, Wilkins RG. Anesthesia and the Lesch-Nyhan syndrome. Anesthesiology. 1985;63:197–9.

    Article  CAS  PubMed  Google Scholar 

  15. Carey WF, Jaunzems A, Richardson M, Fong BA, Chin SJ, Nelson PV. Prenatal diagnosis of mucolipidosis II—electron microscopy and biochemical evaluation. Prenat Diagn. 1999;19:252–6.

    Article  CAS  PubMed  Google Scholar 

  16. Bounds RL, Kuebler J, Cholette JM, Alfieris GM, Emani SM, Wittlieb-Weber CA. Left main coronary artery atresia in an infant with inclusion-cell disease. World J Pediatr Congenit Heart Surg 2016; doi:10.1177/2150135116664701.

  17. Mahfouz AK, George G. Anesthesia for gingivectomy and dental extractions in a child with I-cell disease—a case report. Middle East J Anaesthesiol. 2011;21:121–4.

    PubMed  Google Scholar 

  18. Lowe CU, Terrey M, Mac LE. Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity. AMA Am J Dis Child. 1952;83:164–84.

    CAS  PubMed  Google Scholar 

  19. Bokenkamp A, Ludwig M. The oculocerebrorenal syndrome of Lowe: an update. Pediatr Nephrol. 2016;31:2201–12.

    Article  PubMed  PubMed Central  Google Scholar 

  20. Pueschel SM, Brem AS, Nittoli P. Central nervous system and renal investigations in patients with Lowe syndrome. Child’s Nerv Syst. 1992;8:45–8.

    Article  CAS  Google Scholar 

  21. Saricaog̬lu F, Demirtaş F, Aypar Ü. Preoperative and perioperative management of a patient with Lowe syndrome diagnosed to have Fanconi’s syndrome. Pediatr Anesth. 2004;14:530–2.

    Google Scholar 

  22. Pandey R, Garg R, Chakravarty C, Darlong V, Punj J, Chandralekha. Lowe’s syndrome with Fanconi syndrome for ocular surgery: perioperative anesthetic considerations. J Clin Anesth. 2010;22:635–7.

    Article  PubMed  Google Scholar 

  23. Bezinover D, Postula M, Donahue K, Bentzen B, McInerney J, Janicki PK. Perioperative exacerbation of valproic acid-associated hyperammonemia: a clinical and genetic analysis. Anesth Analg. 2011;113:858–61.

    Article  CAS  PubMed  Google Scholar 

  24. Berry GT. Inborn errors of amino acid and organic acid metabolism. In: Cowett RM, editor. Principles of perinatal—Neonatal metabolism. New York: Springer; 1998. p. 799–819.

    Chapter  Google Scholar 

  25. Kaul N, Khan RM, Sharma PK, Sumant A. Anesthesia in a patient with arginase deficiency: implications and management. Paediatr Anaesth. 2008;18:1139–40.

    Article  PubMed  Google Scholar 

  26. Tsukamoto M, Hitosugi T, Yokoyama T. Discrepancy between electroencephalography and hemodynamics in a patient with Cockayne syndrome during general anesthesia. J Clin Anesth. 2016;35:424–6.

    Article  PubMed  Google Scholar 

  27. Reitz M, Lanz E. DNA strand breaks in cells with DNA repair deficiency after halothane exposure in vitro. Arzneimittelforschung. 1993;43:418–20.

    CAS  PubMed  Google Scholar 

  28. Fjouji S, Bensghir M, Yafat B, Bouhabba N, Boutayeb E, Azendour H, Kamili ND. Postoperative neurological aggravation after anesthesia with sevoflurane in a patient with xeroderma pigmentosum: a case report. J Med Case Rep. 2013;7:73.

    Google Scholar 

  29. Hajijafari M, Ziloochi MH, Fazel MR. Inhalation anesthesia in a patient with xeroderma pigmentosum: a case report. Anesth Pain Med. 2014;4:e17880.

    Article  PubMed  PubMed Central  Google Scholar 

  30. Shrestha GS, Sah RP, Amatya AG, Shrestha N. Anaesthetic management of patients with Xeroderma pigmentosum. A series of three cases. Nepal Med Coll J. 2011;13:231–2.

    CAS  PubMed  Google Scholar 

  31. Schlame M, Kelley RI, Feigenbaum A, Towbin JA, Heerdt PM, Schieble T, Wanders RJ, DiMauro S, Blanck TJ. Phospholipid abnormalities in children with Barth syndrome. J Am Coll Cardiol. 2003;42:1994–9.

    Google Scholar 

  32. Bennett T, Allford M. Delayed emergence from anesthesia in a child with congenital generalized lipodystrophy (Berardinelli-Seip syndrome). Paediatr Anaesth. 2012;22:299–300.

    Article  PubMed  Google Scholar 

  33. Lam H, Kiberenge R, Nguyen T, Sobey JH, Austin T. Anesthetic management of a patient with isovaleric acidemia. A & A case reports. 2015;4:37–8.

    Article  PubMed  Google Scholar 

  34. Vockley J, Ensenauer R. Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity. Am J Med Genet C: Semin Med Genet. 2006;142c:95–103.

    Article  CAS  Google Scholar 

  35. Gonzales ME. Alkaptonuric aortic stenosis: a case report. AANA J. 1999;67:145–51.

    CAS  PubMed  Google Scholar 

  36. Kastsiuchenka S, Mikulka A. Anaesthesia and orphan disease: a patient with alkaptonuria. Eur J Anaesthesiol. 2013;30:779–80.

    Article  PubMed  Google Scholar 

  37. De Armendi A, Patel V, Mayhew JF. Anesthetic management in a child with Glycogen storage Disease IV. Paediatr Anaesth. 2010;20:475.

    Article  PubMed  Google Scholar 

  38. Hallas P, Borgwardt LG, Roed J, Lauritsen T, Dali CI, Lund AM. Anesthesia for patients with alpha-mannosidosis—a case series of 10 patients. Paediatr Anaesth. 2011;21:1269–70.

    Article  PubMed  Google Scholar 

  39. Ellis FR. Inherited muscle disease. Br J Anaesth. 1980;52:153–64.

    Article  CAS  PubMed  Google Scholar 

  40. Aouad R, Atanassoff PG. Epidural anesthesia in a patient with hyperkalemic periodic paralysis undergoing orthopedic surgery. Can J Anaesth. 2004;51:92.

    Article  PubMed  Google Scholar 

  41. Bandschapp O, Iaizzo PA. Pathophysiologic and anesthetic considerations for patients with myotonia congenita or periodic paralyses. Paediatr Anaesth. 2013;23:824–33.

    Article  PubMed  Google Scholar 

  42. Aarons JJ, Moon RE, Camporesi EM. General anesthesia and hyperkalemic periodic paralysis. Anesthesiology. 1989;71:303–4.

    Article  CAS  PubMed  Google Scholar 

  43. Depoix JP, Julliard JM, Aubry P. Propofol-remifentanil target-controlled anesthesia in a patient with hyperkalemic familial periodic paralysis. Anesth Analg. 2004;99:302.

    Article  PubMed  Google Scholar 

  44. Mackenzie MJ, Pickering E, Yentis SM. Anaesthetic management of labour and caesarean delivery of a patient with hyperkalaemic periodic paralysis. Int J Obstet Anesth. 2006;15:329–31.

    Article  CAS  PubMed  Google Scholar 

  45. Nguyen NH, Mayhew JF. Anaesthesia for a child with progeria. Paediatr Anaesth. 2001;11:370–1.

    Article  CAS  PubMed  Google Scholar 

  46. Sahay N, Bhalotra A, Saini G, Dhanda A. Anesthesia in an aging infant: neonatal progeroid syndrome. A & A case reports. 2015;5:173–5.

    Article  PubMed  Google Scholar 

  47. Vreeswijk SJ, Claahsen HL, Borstlap WA, Hendriks MP. Anaesthesia and orphan disease: Hutchinson-Gilford progeria syndrome, a case report and summary of previous cases. Eur J Anaesthesiol. 2016;33:869–72.

    Article  PubMed  Google Scholar 

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Correspondence to Frank Stueber .

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Luedi, M.M., Stueber, F. (2018). Anaesthesia and Rare Metabolic Disorders. In: Fellahi, JL., Leone, M. (eds) Anesthesia in High-Risk Patients. Springer, Cham. https://doi.org/10.1007/978-3-319-60804-4_13

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  • DOI: https://doi.org/10.1007/978-3-319-60804-4_13

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