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Biomarkers in Lysosomal Storage Diseases
Joaquin Bobillo Lobato1, Maria Jiménez Hidalgo2, Luis M Jiménez Jiménez3
1Servicio de Bioquímica Clínica, Unidad de Gestión Clínica de Laboratorios, Hospital Universitario Nuestra Señora de Valme, 41014-Sevilla, Spain. joaquin.bobillo.lobato.sspa@juntadeandalucia.es.
Diseases (Basel, Switzerland)
|September 22, 2017
Summary
Biomarkers are crucial for diagnosing and monitoring lysosomal storage diseases (LSDs), especially with enzyme replacement therapy (ERT). This review highlights promising biomarkers for LSD screening and management.
Area of Science:
- Biochemistry
- Genetics
- Medical Diagnostics
Background:
- Biomarkers indicate biological processes linked to disease outcomes.
- Lysosomal storage diseases (LSDs) have seen therapeutic advances, particularly with enzyme replacement therapy (ERT).
- Biomarkers are vital for diagnosing and monitoring LSDs.
Purpose of the Study:
- To review and summarize promising biomarkers for major LSDs.
- To discuss the utility of these biomarkers in screening and monitoring.
Main Methods:
- Classification of biomarkers into two main types based on their relationship to lysosomal defects.
- Review of proposed biomarkers for the most important LSDs.
Main Results:
- Biomarkers are categorized into direct (accumulated substrates) and indirect (reflecting cellular/organ dysfunction).
- No single gold standard biomarker exists for LSD diagnosis and monitoring.
- Several biomarkers show potential for assessing organ function and disease state in LSDs.
Conclusions:
- Promising biomarkers exist for major LSDs, aiding in diagnosis and monitoring.
- These biomarkers are strong candidates for developing effective screening systems.
- Further research is needed to establish gold standards for biomarker-based LSD management.
