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Elevated serum biotinidase activity in hepatic glycogen storage disorders–A convenient biomarker


Paesold-Burda, P; Baumgartner, M R; Santer, R; Bosshard, N U; Steinmann, B (2007). Elevated serum biotinidase activity in hepatic glycogen storage disorders–A convenient biomarker. Journal of Inherited Metabolic Disease, 30(6):896-902.

Abstract

Summary: An elevated serum biotinidase activity in patients with glycogen storage disease (GSD) type Ia has been reported previously. The aim of this work was to investigate the specificity of the phenomenon and thus we expanded the study to other types of hepatic GSDs. Serum biotinidase activity was measured in a total of 68 GSD patients and was compared with that of healthy controls (8.7 ±10; range 7.0-10.6mU/ml; n=6). We found an increased biotinidase activity in patients with GSD Ia (17.7 ±3.9; range: 11.4-24.8; n=21), GSD I non-a (20.9 ±5.6; range 14.6-26.0; n=4), GSD III (12.5 ±-3.6; range 7.8-19.1; n=3), GSD VI (15.4 ±-2.0; range 14.1-17.7; n=) and GSD IX (14.0 ±-3.8; range: 7.5-21.6; n=22). The sensitivity of this test was 100% for patients with GSD Ia, GSD I non-a and GSD VI, 62% for GSD III, and 77% for GSD IX, indicating reduced sensitivity for GSD III and GSD IX, respectively. In addition, we found elevated biotinidase activity in all sera from 5 patients with Fanconi-Bickel Syndrome (15.3 ±-3.7; range 11.0-19.4). Taken together, we propose serum biotinidase as a diagnostic biomarker for hepatic glycogen storage disorders

Abstract

Summary: An elevated serum biotinidase activity in patients with glycogen storage disease (GSD) type Ia has been reported previously. The aim of this work was to investigate the specificity of the phenomenon and thus we expanded the study to other types of hepatic GSDs. Serum biotinidase activity was measured in a total of 68 GSD patients and was compared with that of healthy controls (8.7 ±10; range 7.0-10.6mU/ml; n=6). We found an increased biotinidase activity in patients with GSD Ia (17.7 ±3.9; range: 11.4-24.8; n=21), GSD I non-a (20.9 ±5.6; range 14.6-26.0; n=4), GSD III (12.5 ±-3.6; range 7.8-19.1; n=3), GSD VI (15.4 ±-2.0; range 14.1-17.7; n=) and GSD IX (14.0 ±-3.8; range: 7.5-21.6; n=22). The sensitivity of this test was 100% for patients with GSD Ia, GSD I non-a and GSD VI, 62% for GSD III, and 77% for GSD IX, indicating reduced sensitivity for GSD III and GSD IX, respectively. In addition, we found elevated biotinidase activity in all sera from 5 patients with Fanconi-Bickel Syndrome (15.3 ±-3.7; range 11.0-19.4). Taken together, we propose serum biotinidase as a diagnostic biomarker for hepatic glycogen storage disorders

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Item Type:Journal Article, refereed, original work
Communities & Collections:National licences > 142-005
Dewey Decimal Classification:610 Medicine & health
Language:English
Date:1 November 2007
Deposited On:26 Nov 2018 16:00
Last Modified:25 Apr 2019 06:55
Publisher:Springer
ISSN:0141-8955
OA Status:Green
Publisher DOI:https://doi.org/10.1007/s10545-007-0734-4
Related URLs:https://www.swissbib.ch/Search/Results?lookfor=nationallicencespringer101007s1054500707344 (Library Catalogue)
PubMed ID:17994282

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