Disorders of mitochondrial metabolism
What is it?
Mitochondrial disease refers to a group of disorders that affect the mitochondria. The mitochondria’s main function is to produce energy. More mitochondria are needed to make more energy, particularly in high-energy demand organs such as the heart, muscles, and brain. When the number or function of mitochondria in the cell are disrupted, less energy is produced and organ dysfunction results.
Depending on which cells within the body have disrupted mitochondria, different symptoms may occur. Mitochondrial disease can cause a vast array of health concerns, including fatigue, weakness, metabolic strokes, seizures, cardiomyopathy, arrhythmias, developmental or cognitive disabilities, diabetes mellitus, impairment of hearing, vision, growth, liver, gastrointestinal, or kidney function, and more. These symptoms can present at any age from infancy up until late adulthood.
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Disorders of mitochondrial metabolism.
Additional names
This group contains additional names:
- Mitochondrial disease
- Mitochondrial disorder
Signs & symptoms
Mitochondrial disorder symptoms include:
* Poor growth
* Loss of muscle coordination, muscle weakness
* Neurological problems, including seizures
* Autism spectrum disorder, represented by a variety of ASD characteristics
* Visual and/or hearing problems
* Developmental delays, learning disabilities
* Heart, liver or kidney disease
* Gastrointestinal disorders, such as severe constipation
* Diabetes
* Respiratory disorders
* Increased risk of infection
* Thyroid and/or adrenal dysfunction
* Dysfunction of the autonomic nervous system
* Neuropsychological changes or dementia characterized by confusion, disorientation and memory loss
Diagnosis
There are various methods to examine if an individual has mitochondrial disease. These include genetic diagnostic testing, genetic or biochemical tests in affected tissues, such as muscle or liver, and other blood or urine based biochemical markers. However, our knowledge is still growing and we do not yet know all of the genes that could potentially cause mitochondrial disease.
Treatment
Currently there is no highly effective treatment or cure for mitochondrial disorder. The management of mitochondrial disease is supportive therapy, which may include nutritional management, exercise and/or vitamin or amino acid supplements.
Knowing the underlying cause of the condition will help the medical team determine the best course of treatment.
☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.
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Source of Information - We analyze big data of more than 23 million patients de-identified medical records from the following sources:
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