Algoritms Used in Diagnosis and Treatment

cocukmetabolizma-5-1-2024

Ayşe Nur ALTUNa , İlyas OKURa

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

ABSTRACT
Metabolic myopathies are a group of inherited metabolic diseases with muscle involvement that occur as a result of the effects of different metabolic pathways. The disease occurs due to mitochondrial metabolism disorders in which the glycogenolysis/glycolytic pathway, lipid and energy production are primarily affected. In this group, although skeletal muscle involvement is the clinical feature, hypoglycemia, cardiac muscle involvement and multisystem findings can be observed. Skeletal muscle involvement may occur with acute exercise intolerance, rhabdomyolysis attacks, or may progress with progressive muscle weakness. For diagnosis, enzyme analysis and molecular tests are performed if the detailed history of the symptoms and specific biochemical and histochemical tests can be performed. In treatment; There are options such as exercise and diet regulation, avoiding stressful situations, cofactors that will increase the activity of enzymes in the pathway, enzyme therapy and gene therapies that are at working level. It is important to make early diagnosis and start treatment in order to improve the quality of life of patients.
Keywords: Metabolic myopathies; carbohydrate; lipid; energy metabolism; lipid metabolism disorders; carbohydrate metabolism; mitochondrial myopathies; muscular diseases

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