What is mitochondrial Encephalomyopathy?

What is mitochondrial Encephalomyopathy?

Overview. Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is an extremely rare genetic condition that begins in childhood. The disorder affects many areas of the body, especially the brain and nervous system (encephalo-) and muscles (myopathy).

What are the symptoms of Melas syndrome?

People with MELAS syndrome have an accumulation of lactic acid in the blood (lactic acidosis), that can lead to vomiting, abdominal pain, fatigue, muscle weakness and difficulty breathing. This accumulation of lactic acid has also been noted in the spinal fluid and in the brain.

What is diagnosis of mitochondrial disorders?

Genetic testing is the most reliable way to diagnose and categorize a mitochondrial disorder. We may recommend genetic testing for your child (and sometimes for parents too) if any of these symptoms are present: developmental delay with involvement of other organs.

What happens when you have mitochondrial disease?

The parts of the body that tend to be most affected are those that need the most energy, such as the heart, brain, muscles and gastrointestinal tract. Symptoms can range from fatigue and exercise intolerance to hearing loss, seizures, strokes, heart failure, diabetes and kidney failure.

Are there any undiagnosed cases of mitochondrial encephalopathy?

The absence of myoclonus or stroke-like episodes does not exclude mitochondrial disease in an undiagnosed encephalopathy. The syndrome of an infantile encephalopathy, possibly a mitochondrial encephalopathy, with pathological findings suggestive of Wernicke’s encephalopathy was first described by Leigh (1951).

How is mitochondrial encephalopathy related to lactic acidosis?

The syndrome of mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is caused by mutations in mitochondrial DNA. As with other mitochondrial disorders, it is inherited in a maternal pattern.

How are drugs used to treat mitochondrial encephalopathy?

Administration of agents that alter mitochondrial metabolism has been used to limit the production of excess lactic acid.

What kind of anomalies are associated with myoclonic encephalopathy?

Early myoclonic encephalopathy has also been associated with the congenital nephrotic syndrome, microcephaly, multiple minor anomalies, and cerebellar hypoplasia ( Nishikawa et al., 1997 ).

What kind of disease is mitochondrial encephalomyopathy?

Mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS) is one of the prominent diseases in this category. It is caused by a mutation in any of 5 mitochondrial genes (MTND1, MTND5, MTTH, MTTV, and especially MTTL1).

What are the signs and symptoms of mitochondrial myopathy?

The main symptoms of mitochondrial myopathy are muscle fatigue, weakness, and exercise intolerance. The severity of any of these symptoms varies greatly from one person to the next, even in the same family. In some individuals, weakness is most prominent in muscles that control movements of the eyes and eyelids.

Do you need to exercise if you have mitochondrial myopathy?

While overexertion should be avoided, moderate exercise appears to help people with mitochondrial myopathy maintain strength. A mitochondrial encephalomyopathy typically includes some of the symptoms of myopathy plus one or more neurological symptoms. Again, these symptoms vary greatly among individuals in both type and severity.

Why is free carnitine lower in mitochondrial encephalomyopathy?

Similarly, free carnitine in blood of mitochondrial encephalomyopathy patients is often lower than normal, but esterified carnitine tends to be increased. This shift may be due to reduced fatty acid metabolism through beta oxidation, which feeds electrons into coenzyme Q10 (CoQ10) in the respiratory chain.