What are examples of mitochondrial genetic disorders?
The most common forms of mitochondrial disease caused by recurrent mtDNA mutations first recognized 30 years ago include:
- Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome.
- Myoclonic epilepsy with ragged red fibers (MERRF)
- Neuropathy, ataxia and retinitis pigmentosa (NARP) syndrome.
How could a child have a mitochondrial disorder?
Mitochondrial diseases are chronic (long-term), genetic, often inherited disorders that occur when mitochondria fail to produce enough energy for the body to function properly. (Inherited means the disorder was passed on from parents to children.)
How do babies get mitochondrial disease?
Mitochondrial disease can be caused by one of the following: a fault (mutation) in the nDNA that is inherited from both parents (autosomal recessive inheritance) a mutation in the mtDNA that can be maternally inherited (mtDNA inheritance)
What is mitochondrial disease?
Nutritional support in mitochondrial diseases: the state of the art Mitochondrial diseases are a group of rare multisystem disorders characterized by genetic heterogeneity and pleomorphic clinical manifestations. The clinical burden may be heavy for patients and their caregivers.
How can nutritional intervention help patients with mitochondrial disease?
Every attempt at nutritional intervention should be made knowing patient’s disease and focusing on his/her energy and nutrients’ requirements. For this reason, clinicians expert in mitochondrial medicine and clinical nutritionists should work together to ameliorate care in these fragile patients.
Is there hope for mitochondrial disease?
From the patients’ perspective, there is an understanding that there is still a long road ahead, but there is also hope. The use of dietary supplements and medical foods is currently a very important part of the symptomatic management of mitochondrial disorders.
What is the mitochondrial disease research program?
The mitochondrial disease clinical, patient advocacy, and research communities are committed to finding safe and effective treatments for PMD through scientific discovery and the development of evidence-based clinical trials.