Biomarkers in Glycogen Storage Diseases: An Update
| Autor: | Miguel Carnero-Gregorio, Alberto Molares-Vila, Carmen Rodríguez-Cerdeira, José Luís González-Cespón, Alberte Corbalán-Rivas |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
QH301-705.5
Urinary system Disease Review Neutropenia Bioinformatics Catalysis Inorganic Chemistry chemistry.chemical_compound muscle GSD medicine Humans Physical and Theoretical Chemistry Biology (General) Molecular Biology QD1-999 Spectroscopy Glycogen business.industry Organic Chemistry Pompe disease biomarkers General Medicine Fibroblast growth factor receptor 4 medicine.disease Glycogen Storage Disease Glycogen storage disease (GSD) Computer Science Applications Chemistry hepatic GSD chemistry Hereditary Diseases Biotinidase Calprotectin business Glycogen storage disease (GSD) Pompe disease Glycogen metabolism |
| Zdroj: | International Journal of Molecular Sciences, Vol 22, Iss 4381, p 4381 (2021) International Journal of Molecular Sciences |
| ISSN: | 1661-6596 1422-0067 |
| Popis: | Glycogen storage diseases (GSDs) are a group of 19 hereditary diseases caused by a lack of one or more enzymes involved in the synthesis or degradation of glycogen and are characterized by deposits or abnormal types of glycogen in tissues. Their frequency is very low and they are considered rare diseases. Except for X-linked type IX, the different types are inherited in an autosomal recessive pattern. In this study we reviewed the literature from 1977 to 2020 concerning GSDs, biomarkers, and metabolic imbalances in the symptoms of some GSDs. Most of the reported studies were performed with very few patients. Classification of emerging biomarkers between different types of diseases (hepatics GSDs, McArdle and PDs and other possible biomarkers) was done for better understanding. Calprotectin for hepatics GSDs and urinary glucose tetrasaccharide for Pompe disease have been approved for clinical use, and most of the markers mentioned in this review only need clinical validation, as a final step for their routine use. Most of the possible biomarkers are implied in hepatocellular adenomas, cardiomyopathies, in malfunction of skeletal muscle, in growth retardation, neutropenia, osteopenia and bowel inflammation. However, a few markers have lost interest due to a great variability of results, which is the case of biotinidase, actin alpha 2, smooth muscle, aorta and fibroblast growth factor receptor 4. This is the first review published on emerging biomarkers with a potential application to GSDs. |
| Databáze: | OpenAIRE |
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