Mitochondrial disease is not a single condition but an umbrella term for dozens of specific conditions in which the body’s cells have issues producing energy.
Together, these conditions affect in between 1 in 6,000 and 1 in 8,000 live births, making mitochondrial disease practically as typical as youth cancer. Separately, however, these conditions are extremely unusual. Mitochondrial conditions are regularly called mitochondrial encephalomyopathies and include the following, as well as numerous others:
- Kearns Sayre syndrome
- Leigh’s disease
- MELAS (mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes).
- MERRF (myoclonic epilepsy with ragged red fibers).
- MNGIE (mitochondrial neurogastrointestinal encephalopathy).
- Pearson marrow pancreas syndrome.
- conditions of pyruvate metabolic process, such as pyruvate dehydrogenase shortage.
- conditions of the Krebs cycle.
Mitochondrial disorders are genetic and sometimes run in households. They can cause a wide variety of symptoms, from developmental hold-up and hearing loss to seizures, strokes, heart failure and diabetes, in differing mixes. Multi-organ participation is common for these conditions. Disease can range from severe, beginning at birth, to mild disease that does not emerge till their adult years. In some cases it can appear suddenly when the child is challenged by another illness.
The first condition of mitochondrial function was described by Luft in 1959. Over the occurring decades, numerous cases of mitochondrial dysfunction were reported, and the term “mitochondrial disorder” arose to explain any problem in the mitochondrial electron transportation chain. The series of the mitochondrial genome was clarified in 1981 by Anderson et al
There is currently no remedy for mitochondrial disease. Treatment consists primarily of helpful therapy along with some vitamins and supplements. Treatments are customized depending on which mitochondrial disorder and what symptoms a child has. Considering that children with mitochondrial disease are very sensitive to even minor diseases and other stress factors, we keep close tabs on our patients’ overall health and work closely with professionals to ensure the best take care of the “entire child.”.
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