{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T07:59:56Z","timestamp":1762070396876,"version":"build-2065373602"},"reference-count":24,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2022,9,30]],"date-time":"2022-09-30T00:00:00Z","timestamp":1664496000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Biomolecules"],"abstract":"<jats:p>A family is described as having two recessively inherited metabolic diseases and three differently affected children. During the explantation of a drain tube grommet under general anesthesia, a prolonged resuscitation and wake-up period occurred in the key case when he was 8 years old. This led to a family screening for butyrylcholinesterase deficiency, which was confirmed not only in the key case but also in his 5-year-old sister; it was not confirmed in his 10-year-old brother. However, the key case not only had reduced serum levels of BCHE, but also elevated liver enzyme levels, which are atypical for BCHE deficiency. After the exclusion of viral and autoimmune hepatitis, Wilson\u2019s disease (WD) was eventually diagnosed and also confirmed in his elder brother, but not in his sister. This family is presented to highlight an extremely rare WD-patient in whom a low serum level of BCHE did not occur because of WD but because of BCHE deficiency.<\/jats:p>","DOI":"10.3390\/biom12101398","type":"journal-article","created":{"date-parts":[[2022,10,8]],"date-time":"2022-10-08T00:07:43Z","timestamp":1665187663000},"page":"1398","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Cholinesterase Deficiency Syndrome\u2014A Pitfall in the Use of Butyrylcholinesterase as a Biomarker for Wilson\u2019s Disease"],"prefix":"10.3390","volume":"12","author":[{"given":"Max","family":"Arslan","sequence":"first","affiliation":[{"name":"Departments of Neurology, University of D\u00fcsseldorf, Moorenstrasse 5, 40225 D\u00fcsseldorf, Germany"},{"name":"Departments of Anesthesiology, University of D\u00fcsseldorf, Moorenstrasse 5, 40225 D\u00fcsseldorf, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Max","family":"Novak","sequence":"additional","affiliation":[{"name":"Departments of Neurology, University of D\u00fcsseldorf, Moorenstrasse 5, 40225 D\u00fcsseldorf, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dietmar","family":"Rosenthal","sequence":"additional","affiliation":[{"name":"Departments of Neurology, University of D\u00fcsseldorf, Moorenstrasse 5, 40225 D\u00fcsseldorf, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian J.","family":"Hartmann","sequence":"additional","affiliation":[{"name":"Departments of Neurology, University of D\u00fcsseldorf, Moorenstrasse 5, 40225 D\u00fcsseldorf, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philipp","family":"Albrecht","sequence":"additional","affiliation":[{"name":"Departments of Neurology, University of D\u00fcsseldorf, Moorenstrasse 5, 40225 D\u00fcsseldorf, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3593-1852","authenticated-orcid":false,"given":"Sara","family":"Samadzadeh","sequence":"additional","affiliation":[{"name":"Departments of Neurology, University of D\u00fcsseldorf, Moorenstrasse 5, 40225 D\u00fcsseldorf, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1069-7684","authenticated-orcid":false,"given":"Harald","family":"Hefter","sequence":"additional","affiliation":[{"name":"Departments of Neurology, University of D\u00fcsseldorf, Moorenstrasse 5, 40225 D\u00fcsseldorf, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,9,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1007\/s13539-012-0083-5","article-title":"Butyrylcholinesterase as a prognostic marker: A review of the literature","volume":"4","author":"Santarpia","year":"2013","journal-title":"J. Cach. Sarco. Muscle"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"15","DOI":"10.7869\/tg.158","article-title":"Serum cholinesterase is an excellent biomarker of cirrhosis","volume":"35","author":"Ramachandran","year":"2014","journal-title":"Trop. Gastroenterol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"e014100","DOI":"10.1161\/JAHA.119.014100","article-title":"Prognostic significance of serum cholinesterase level in patients with acute decompensated heart failure with preserved ejection fraction: Insights from the PURSUIT-HFpEF Registry","volume":"9","author":"Seo","year":"2020","journal-title":"J. Am. Heart Assoc."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1007\/s00380-014-0469-8","article-title":"Serum cholinesterase is an important prognostic factor in chronic heart failure","volume":"30","author":"Sato","year":"2015","journal-title":"Heart Vessel."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1080\/1354750X.2019.1684564","article-title":"Serum cholinesterase biomarker study in farmers\u2013Sous Massa regio-Morocco: Case-control study","volume":"24","author":"Sine","year":"2019","journal-title":"Biomarkers"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1016\/j.jinf.2020.08.021","article-title":"Serum cholinesterase associated with COVID-19 pneumonia severity and mortality","volume":"82","author":"Nakajima","year":"2021","journal-title":"J. Infect."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"e13714","DOI":"10.1097\/MD.0000000000013714","article-title":"Prolonged neuromuscular block associated with cholinesterase deficiency","volume":"97","author":"Zhang","year":"2018","journal-title":"Medicine"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1226","DOI":"10.1016\/j.toxrep.2021.06.016","article-title":"Butyryl-cholinesterase deficiency: A case report of delayed recovery after general anesthesia","volume":"8","year":"2021","journal-title":"Toxicol. Rep."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1381","DOI":"10.1021\/acs.chemrestox.6b00228","article-title":"Naturally occurring genetic variants of human acetylcholinesterase and butyrylcholinesterase and their potential impact on the risk of toxicity from cholinesterase inhibitors","volume":"29","author":"Lockridge","year":"2016","journal-title":"Chem. Res. Toxicol."},{"key":"ref_10","first-page":"1","article-title":"Pseudocholinesterase deficiency","volume":"14","author":"Alexander","year":"2017","journal-title":"Medscape"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"439","DOI":"10.3233\/JIN-180080","article-title":"Newly discovered COLQ gene mutation and its clinical features in patients with acetyl cholinesterase deficiency","volume":"17","author":"Zhang","year":"2018","journal-title":"J. Integr. Neurosc."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1093\/brain\/34.4.295","article-title":"Progressive lenticular degeneration: A familial nervous disease associated with cirrhosis of the liver","volume":"34","author":"Wilson","year":"1912","journal-title":"Brain"},{"key":"ref_13","doi-asserted-by":"crossref","unstructured":"Hefter, H., Arslan, M., Kruschel, T.S., Novak, M., Rosenthal, D., Meuth, S.G., Albrecht, P., Hartmann, C., and Samadzadeh, S. (J. Hep., 2022). Pseudocholinesterase as a biomarker for Wilson\u2019s disease, J. Hep., submitted.","DOI":"10.3390\/biom12121791"},{"key":"ref_14","first-page":"380","article-title":"All variants of plasma cholinesterase are determined by mutations of one gene on chromosome 3q26","volume":"77","author":"Pantuk","year":"1993","journal-title":"Anesth. Analg."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"783","DOI":"10.1016\/j.neuint.2012.06.016","article-title":"Why has butyrylcholinesterase been retained? Structural and functional diversification in a duplicated gene","volume":"61","author":"Johnson","year":"2012","journal-title":"Neurochem. Int."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1080\/00039899709603798","article-title":"Prevalence of congenital deficiency in serum cholinesterase","volume":"52","author":"Rosenman","year":"1997","journal-title":"Arch. Environ. Health"},{"key":"ref_17","first-page":"982","article-title":"Plasma cholinesterase deficiency in Turkish patients","volume":"71","author":"Shab","year":"2016","journal-title":"Anaesthesia"},{"key":"ref_18","first-page":"S710","article-title":"Modified electroconvulsive therapy in pseudocholinesterase deficiency: A case report","volume":"Volume 415","author":"Yildizhan","year":"2017","journal-title":"25th European Congress Psychiatry"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"1065","DOI":"10.1007\/s00439-020-02161-3","article-title":"ATP7B variant penetrance explains differences between genetic and clinical prevalence estimates for Wilson disease","volume":"139","author":"Wallace","year":"2020","journal-title":"Hum. Genet."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1038\/ng1293-327","article-title":"The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene","volume":"5","author":"Bull","year":"1993","journal-title":"Nature Genet."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"e25463","DOI":"10.1097\/MD.0000000000025463","article-title":"Identification of mutations in the ATP7B gene in 14 Wilson disease children","volume":"100","author":"Wang","year":"2021","journal-title":"Medicine"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"1066","DOI":"10.1002\/mds.22474","article-title":"Monozygotic female twins discordant for phenotype of Wilson\u2019s disease","volume":"24","author":"Czlonkowska","year":"2009","journal-title":"Mov. Disord."},{"key":"ref_23","unstructured":"Samadzadeh, S. (2022). Long-Term Follow-Up of 115 Patients with Wilson\u2019s Disease. [Dr. Med Dissertation, University of D\u00fcsseldorf]. Available online: https:\/\/docserv.uni-duesseldorf.de\/servlets\/DocumentServlet?id=59305."},{"key":"ref_24","doi-asserted-by":"crossref","unstructured":"Samadzadeh, S., Kruschel, T., Novak, M., Kallenbach, M., and Hefter, H. (2022). Different Response Behavior to Therapeutic Approaches in Homozygotic Wilson\u2019s Disease Twins with Clinical Phenotypic Variability: Case Report and Literature Review. Genes, 13.","DOI":"10.3390\/genes13071217"}],"container-title":["Biomolecules"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2218-273X\/12\/10\/1398\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T00:44:18Z","timestamp":1760143458000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2218-273X\/12\/10\/1398"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9,30]]},"references-count":24,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2022,10]]}},"alternative-id":["biom12101398"],"URL":"https:\/\/doi.org\/10.3390\/biom12101398","relation":{},"ISSN":["2218-273X"],"issn-type":[{"type":"electronic","value":"2218-273X"}],"subject":[],"published":{"date-parts":[[2022,9,30]]}}}