Cholinesterase Deficiency Syndrome—A Pitfall in the Use of Butyrylcholinesterase as a Biomarker for Wilson’s Disease
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...
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-09-01
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| Series: | Biomolecules |
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| Online Access: | https://www.mdpi.com/2218-273X/12/10/1398 |
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| author | Max Arslan Max Novak Dietmar Rosenthal Christian J. Hartmann Philipp Albrecht Sara Samadzadeh Harald Hefter |
| author_facet | Max Arslan Max Novak Dietmar Rosenthal Christian J. Hartmann Philipp Albrecht Sara Samadzadeh Harald Hefter |
| author_sort | Max Arslan |
| collection | DOAJ |
| description | 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’s 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. |
| first_indexed | 2024-03-09T20:37:00Z |
| format | Article |
| id | doaj.art-796a37826e76446282a8015ead6e8afa |
| institution | Directory Open Access Journal |
| issn | 2218-273X |
| language | English |
| last_indexed | 2024-03-09T20:37:00Z |
| publishDate | 2022-09-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Biomolecules |
| spelling | doaj.art-796a37826e76446282a8015ead6e8afa2023-11-23T23:08:00ZengMDPI AGBiomolecules2218-273X2022-09-011210139810.3390/biom12101398Cholinesterase Deficiency Syndrome—A Pitfall in the Use of Butyrylcholinesterase as a Biomarker for Wilson’s DiseaseMax Arslan0Max Novak1Dietmar Rosenthal2Christian J. Hartmann3Philipp Albrecht4Sara Samadzadeh5Harald Hefter6Departments of Neurology, University of Düsseldorf, Moorenstrasse 5, 40225 Düsseldorf, GermanyDepartments of Neurology, University of Düsseldorf, Moorenstrasse 5, 40225 Düsseldorf, GermanyDepartments of Neurology, University of Düsseldorf, Moorenstrasse 5, 40225 Düsseldorf, GermanyDepartments of Neurology, University of Düsseldorf, Moorenstrasse 5, 40225 Düsseldorf, GermanyDepartments of Neurology, University of Düsseldorf, Moorenstrasse 5, 40225 Düsseldorf, GermanyDepartments of Neurology, University of Düsseldorf, Moorenstrasse 5, 40225 Düsseldorf, GermanyDepartments of Neurology, University of Düsseldorf, Moorenstrasse 5, 40225 Düsseldorf, GermanyA 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’s 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.https://www.mdpi.com/2218-273X/12/10/1398Wilson’s diseasecholinesterase deficiencybiomarkertherapy monitoring |
| spellingShingle | Max Arslan Max Novak Dietmar Rosenthal Christian J. Hartmann Philipp Albrecht Sara Samadzadeh Harald Hefter Cholinesterase Deficiency Syndrome—A Pitfall in the Use of Butyrylcholinesterase as a Biomarker for Wilson’s Disease Biomolecules Wilson’s disease cholinesterase deficiency biomarker therapy monitoring |
| title | Cholinesterase Deficiency Syndrome—A Pitfall in the Use of Butyrylcholinesterase as a Biomarker for Wilson’s Disease |
| title_full | Cholinesterase Deficiency Syndrome—A Pitfall in the Use of Butyrylcholinesterase as a Biomarker for Wilson’s Disease |
| title_fullStr | Cholinesterase Deficiency Syndrome—A Pitfall in the Use of Butyrylcholinesterase as a Biomarker for Wilson’s Disease |
| title_full_unstemmed | Cholinesterase Deficiency Syndrome—A Pitfall in the Use of Butyrylcholinesterase as a Biomarker for Wilson’s Disease |
| title_short | Cholinesterase Deficiency Syndrome—A Pitfall in the Use of Butyrylcholinesterase as a Biomarker for Wilson’s Disease |
| title_sort | cholinesterase deficiency syndrome a pitfall in the use of butyrylcholinesterase as a biomarker for wilson s disease |
| topic | Wilson’s disease cholinesterase deficiency biomarker therapy monitoring |
| url | https://www.mdpi.com/2218-273X/12/10/1398 |
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