Biochemical Diagnosis in Metabolic Myopathies

Rıdvan Murat ÖKTEMa , Gürsel BİBEROĞLUa

aGazi University Faculty of Medicine, Department of Pediatric Metabolism Diseases, Ankara, Türkiye

ABSTRACT
Metabolic myopathies pose a challenging group of diseases in terms of laboratory diagnosis. This group includes myopathies resulting from inherited disorders in glycogen, lipid, or purine metabolism, as well as inherited abnormalities in the mitochondrial electron transport chain. While muscle enzymes (such as creatine kinase) and urine myoglobin can be used as initial screening tests for biochemical diagnosis, they are often insufficient for the differential diagnosis of metabolic myopathies, requiring more specific tests. In this regard, biomarkers such as glycotetrasaccharides (Glc4) for some types of glycogen storage diseases, serum free and total carnitine, acylcarnitine profile and urine organic acids for lipid metabolism disorders and purines and pyrimidine metabolites for purine metabolism disorders can be considered among the biomarkers that can be used in the differential diagnosis of metabolic myopathies. The lack of reliable biomarkers that can be used in the differential diagnosis of metabolic myopathies can lead to delayed diagnosis, progression of underlying diseases, and perhaps inaccurate determination of the prevalence of these diseases in population. As in many other fields, there is a need for the discovery of new biomarkers in this context.
Keywords: Biomarkers; diagnosis; clinical laboratory science

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