Elevated Plasma Vitamin B<sub>12</sub> in Patients with Hepatic Glycogen Storage Diseases
<i>Background</i>: Hepatic glycogen storage diseases (GSDs) are inborn errors of metabolism affecting the synthesis or breakdown of glycogen in the liver. This study, for the first time, systematically assessed vitamin B<sub>12</sub> status in a large cohort of hepatic GSD pa...
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MDPI AG
2020-07-01
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Online Access: | https://www.mdpi.com/2077-0383/9/8/2326 |
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Article |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Julia Hinkel Johannes Schmitt Michael Wurm Stefanie Rosenbaum-Fabian Karl Otfried Schwab Donald W. Jacobsen Ute Spiekerkoetter Sergey N. Fedosov Luciana Hannibal Sarah C. Grünert |
spellingShingle |
Julia Hinkel Johannes Schmitt Michael Wurm Stefanie Rosenbaum-Fabian Karl Otfried Schwab Donald W. Jacobsen Ute Spiekerkoetter Sergey N. Fedosov Luciana Hannibal Sarah C. Grünert Elevated Plasma Vitamin B<sub>12</sub> in Patients with Hepatic Glycogen Storage Diseases Journal of Clinical Medicine glycogen storage disease glycogen vitamin B<sub>12</sub> cobalamin liver transaminases vitamin B<sub>12</sub> intake |
author_facet |
Julia Hinkel Johannes Schmitt Michael Wurm Stefanie Rosenbaum-Fabian Karl Otfried Schwab Donald W. Jacobsen Ute Spiekerkoetter Sergey N. Fedosov Luciana Hannibal Sarah C. Grünert |
author_sort |
Julia Hinkel |
title |
Elevated Plasma Vitamin B<sub>12</sub> in Patients with Hepatic Glycogen Storage Diseases |
title_short |
Elevated Plasma Vitamin B<sub>12</sub> in Patients with Hepatic Glycogen Storage Diseases |
title_full |
Elevated Plasma Vitamin B<sub>12</sub> in Patients with Hepatic Glycogen Storage Diseases |
title_fullStr |
Elevated Plasma Vitamin B<sub>12</sub> in Patients with Hepatic Glycogen Storage Diseases |
title_full_unstemmed |
Elevated Plasma Vitamin B<sub>12</sub> in Patients with Hepatic Glycogen Storage Diseases |
title_sort |
elevated plasma vitamin b<sub>12</sub> in patients with hepatic glycogen storage diseases |
publisher |
MDPI AG |
series |
Journal of Clinical Medicine |
issn |
2077-0383 |
publishDate |
2020-07-01 |
description |
<i>Background</i>: Hepatic glycogen storage diseases (GSDs) are inborn errors of metabolism affecting the synthesis or breakdown of glycogen in the liver. This study, for the first time, systematically assessed vitamin B<sub>12</sub> status in a large cohort of hepatic GSD patients. <i>Methods</i>: Plasma vitamin B<sub>12</sub>, total plasma homocysteine (tHcy) and methylmalonic acid concentrations were measured in 44 patients with hepatic GSDs and compared to 42 healthy age- and gender-matched controls. Correlations of vitamin B<sub>12</sub> status with different disease markers of GSDs (including liver transaminase activities and triglycerides) as well as the vitamin B<sub>12</sub> intake were studied. <i>Results</i>: GSD patients had significantly higher plasma vitamin B<sub>12</sub> concentrations than healthy controls (<i>p</i> = 0.0002). Plasma vitamin B<sub>12</sub> concentration remained elevated in GSD patients irrespective of vitamin B<sub>12</sub> intake. Plasma vitamin B<sub>12</sub> concentrations correlated negatively with triglyceride levels, whereas no correlations were detected with liver transaminase activities (GOT and GPT) in GSD patients. Merging biomarker data of healthy controls and GSD patients showed a positive correlation between vitamin B<sub>12</sub> status and liver function, which suggests complex biomarker associations. A combined analysis of biomarkers permitted a reliable clustering of healthy controls versus GSD patients. <i>Conclusions</i>: Elevated plasma concentration of vitamin B<sub>12</sub> (irrespective of B<sub>12</sub> intake) is a common finding in patients with hepatic GSD. The negative correlation of plasma vitamin B<sub>12</sub> with triglyceride levels suggests an influence of metabolic control on the vitamin B<sub>12</sub> status of GSD patients. Elevated vitamin B<sub>12</sub> was not correlated with GOT and GPT in our cohort of GSD patients. Merging of data from healthy controls and GSD patients yielded positive correlations between these biomarkers. This apparent dichotomy highlights the intrinsic complexity of biomarker associations and argues against generalizations of liver disease and elevated vitamin B<sub>12</sub> in blood. Further studies are needed to determine whether the identified associations are causal or coincidental, and the possible impact of chronically elevated vitamin B<sub>12</sub> on GSD. |
topic |
glycogen storage disease glycogen vitamin B<sub>12</sub> cobalamin liver transaminases vitamin B<sub>12</sub> intake |
url |
https://www.mdpi.com/2077-0383/9/8/2326 |
work_keys_str_mv |
AT juliahinkel elevatedplasmavitaminbsub12subinpatientswithhepaticglycogenstoragediseases AT johannesschmitt elevatedplasmavitaminbsub12subinpatientswithhepaticglycogenstoragediseases AT michaelwurm elevatedplasmavitaminbsub12subinpatientswithhepaticglycogenstoragediseases AT stefanierosenbaumfabian elevatedplasmavitaminbsub12subinpatientswithhepaticglycogenstoragediseases AT karlotfriedschwab elevatedplasmavitaminbsub12subinpatientswithhepaticglycogenstoragediseases AT donaldwjacobsen elevatedplasmavitaminbsub12subinpatientswithhepaticglycogenstoragediseases AT utespiekerkoetter elevatedplasmavitaminbsub12subinpatientswithhepaticglycogenstoragediseases AT sergeynfedosov elevatedplasmavitaminbsub12subinpatientswithhepaticglycogenstoragediseases AT lucianahannibal elevatedplasmavitaminbsub12subinpatientswithhepaticglycogenstoragediseases AT sarahcgrunert elevatedplasmavitaminbsub12subinpatientswithhepaticglycogenstoragediseases |
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doaj-77fddebd4386424f94f71b01da372b3e2020-11-25T03:14:46ZengMDPI AGJournal of Clinical Medicine2077-03832020-07-0192326232610.3390/jcm9082326Elevated Plasma Vitamin B<sub>12</sub> in Patients with Hepatic Glycogen Storage DiseasesJulia Hinkel0Johannes Schmitt1Michael Wurm2Stefanie Rosenbaum-Fabian3Karl Otfried Schwab4Donald W. Jacobsen5Ute Spiekerkoetter6Sergey N. Fedosov7Luciana Hannibal8Sarah C. Grünert9Department of General Pediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Medical Center—University of Freiburg, 79106 Freiburg, GermanyDepartment of General Pediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Medical Center—University of Freiburg, 79106 Freiburg, GermanyDepartment of General Pediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Medical Center—University of Freiburg, 79106 Freiburg, GermanyDepartment of General Pediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Medical Center—University of Freiburg, 79106 Freiburg, GermanyDepartment of General Pediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Medical Center—University of Freiburg, 79106 Freiburg, GermanyDepartment of Cardiovascular and Metabolic Sciences, Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USADepartment of General Pediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Medical Center—University of Freiburg, 79106 Freiburg, GermanyDepartment of Molecular Biology and Genetics, Aarhus University, DK-8000 Aarhus C, DenmarkLaboratory of Clinical Biochemistry and Metabolism, Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, 79106 Freiburg, GermanyDepartment of General Pediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Medical Center—University of Freiburg, 79106 Freiburg, Germany<i>Background</i>: Hepatic glycogen storage diseases (GSDs) are inborn errors of metabolism affecting the synthesis or breakdown of glycogen in the liver. This study, for the first time, systematically assessed vitamin B<sub>12</sub> status in a large cohort of hepatic GSD patients. <i>Methods</i>: Plasma vitamin B<sub>12</sub>, total plasma homocysteine (tHcy) and methylmalonic acid concentrations were measured in 44 patients with hepatic GSDs and compared to 42 healthy age- and gender-matched controls. Correlations of vitamin B<sub>12</sub> status with different disease markers of GSDs (including liver transaminase activities and triglycerides) as well as the vitamin B<sub>12</sub> intake were studied. <i>Results</i>: GSD patients had significantly higher plasma vitamin B<sub>12</sub> concentrations than healthy controls (<i>p</i> = 0.0002). Plasma vitamin B<sub>12</sub> concentration remained elevated in GSD patients irrespective of vitamin B<sub>12</sub> intake. Plasma vitamin B<sub>12</sub> concentrations correlated negatively with triglyceride levels, whereas no correlations were detected with liver transaminase activities (GOT and GPT) in GSD patients. Merging biomarker data of healthy controls and GSD patients showed a positive correlation between vitamin B<sub>12</sub> status and liver function, which suggests complex biomarker associations. A combined analysis of biomarkers permitted a reliable clustering of healthy controls versus GSD patients. <i>Conclusions</i>: Elevated plasma concentration of vitamin B<sub>12</sub> (irrespective of B<sub>12</sub> intake) is a common finding in patients with hepatic GSD. The negative correlation of plasma vitamin B<sub>12</sub> with triglyceride levels suggests an influence of metabolic control on the vitamin B<sub>12</sub> status of GSD patients. Elevated vitamin B<sub>12</sub> was not correlated with GOT and GPT in our cohort of GSD patients. Merging of data from healthy controls and GSD patients yielded positive correlations between these biomarkers. This apparent dichotomy highlights the intrinsic complexity of biomarker associations and argues against generalizations of liver disease and elevated vitamin B<sub>12</sub> in blood. Further studies are needed to determine whether the identified associations are causal or coincidental, and the possible impact of chronically elevated vitamin B<sub>12</sub> on GSD.https://www.mdpi.com/2077-0383/9/8/2326glycogen storage diseaseglycogenvitamin B<sub>12</sub>cobalaminliver transaminasesvitamin B<sub>12</sub> intake |