Metabolic Diseases: New Perspectives in Diagnosis, Tools and Treatment

Dear Colleagues,

Metabolic diseases occur while abnormal biochemical reactions interfere with the body's metabolism. These disturbances can affect the proper breakdown of large molecules for energy, disrupt the efficient production of energy by cells, or cause problems with energy regulation.

The epidemiology of metabolic diseases is very diverse, and their increasing prevalence in the population is becoming problematic. The presence of various genes and their allelic variants responsible for the occurrence of disorders, e.g., at the level of enzymes involved in biochemical transformations or mitochondrial causes of neurodegenerative and myopathic disorders, makes research on metabolic diseases difficult both in terms of diagnostics and monitoring the effects of treatment. The wide variety of symptoms of these disorders also creates issues and extends the diagnostic process.

The increased risk of metabolic diseases is related to the occurrence of disorders of the nutritional state and unfavorable progressive changes in body composition. When analyzing metabolic diseases, new biomedical technologies using the basics of bioengineering, biotechnological, microbiological, and genetic sciences are a useful tool.

Modeling of human disease has been shown to be possible, inter alia, by the use of human pluripotent stem cells (hPSCs) in in vitro studies. Currently, increasing attention is also being paid to genome editing tools, thanks to which cells can be genetically modified, allowing for a detailed assessment of the genetic basis of certain diseases—including metabolic syndromes. However, therapy of metabolic diseases is difficult due to the inability to eliminate their causes, and treatment is mainly based on relieving the symptoms and slowing down the disease. Therapeutic management may include physical therapy, supplementation, dietary management, and symptomatic treatment.

This Special Issue will publish advancements and current trends in metabolic disease diagnosis, tools, and treatment. Research and review articles on the presented and related topics are appropriate for this special edition of Diagnostics.

Prof. Dr. Anna Lubkowska
Guest Editor

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