The term Mitochondrial refers to a disease of certain cell structures, the mitochondria. These sit in every cell in the body and have the task of supplying them with energy. Mitochondrial disease usually occurs in children or early adulthood. Some patients have only mild symptoms, such as muscle weakness during exercise. Others suffer from serious damage to the nervous system. Read more about symptoms, diagnosis and treatment of mitochondriopathy here.

ICD codes for this disease: ICD codes are internationally valid medical diagnosis codes. They are found e.g. in medical reports or on incapacity certificates. E88G31ArtikelübersichtMitochondriopathie

  • description
  • symptoms
  • Causes and risk factors
  • Examinations and diagnosis
  • treatment
  • Disease course and prognosis

Mitochondriopathy: description

What are mitochondria?

By mitochondriopathy, physicians understand a disease of certain structures of the body's cells, the mitochondria. These tiny "cell organelles" are also called "power plants of the cell". They occur in almost all human cells. In them metabolic processes such as the so-called respiratory chain take place. Through this process, the body uses about 90 percent of body energy, for example, sugar (glucose) or fatty acids.

In mitochondrial disease, the proteins (proteins) involved in the respiratory chain are not functional. Therefore, only relatively little energy is gained. The reason for this is a change in the genetic material (mutation). This especially affects organs that require a lot of energy. These include, among other things, the brain or the eye muscles.

Occurrence and frequency

The first symptoms of mitochondrial disease occur in childhood and adolescence, sometimes even in early adulthood. It is estimated that out of 100,000 people, approximately twelve suffer from mitochondriopathy.

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Mitochondriopathy: symptoms

There are different forms of mitochondriopathy, which differ in their symptoms. According to the symptoms, mitochondriopathies are divided into different syndromes. The word syndrome refers to signs of disease that occur simultaneously and are related.

Common symptoms of patients with various mitochondriopathies are common:

  • short stature
  • Exercise-dependent muscle weakness
  • Ocular palsies
  • Diabetes mellitus
  • Seizures (epilepsy)

The following syndromes are only a part of possible mitochondriopathies, but other syndromes are less common:

MELAS syndrome

The abbreviation "MELAS" stands for mitochondrial encephalopathy, lactic acidosis and stroke-like episodes. In MELAS syndrome, patients suffer from seizures and dementia. Encephalopathy describes diseases of the brain. Lactic acidosis occurs when the body has to provide a lot of energy without the mitochondria respiratory chain working together. It is the cause of stroke-like episodes that, like a true stroke, are associated with paralysis. Reason is a reduced blood circulation and a lack of oxygen in the brain. Most of these symptoms disappear as soon as lactic acidosis is treated.

MERRF syndrome

The abbreviation "MERRF" stands for myoclonus epilepsy with "ragged-red-fibers". As a myoclonus doctors refer to an involuntary twitching muscles. "Red-Ragged-Fibers" describe muscle cells with swollen mitochondria, which the pathologist finds in a tissue sample under the microscope in a mitochondriopathy of this kind. The patients often suffer from movement and balance disorders, usually a severe epilepsy is in the foreground of the complaints.

Kearns-Syre syndrome

In this form of mitochondrial disease, patients primarily suffer from eye damage such as paralysis of the eye muscles or retinal changes. Also heart muscle damage occur frequently. Regular cardiologist examinations are important for these patients. In many people affected the hormone balance is disturbed, which manifests itself in the form of diseases such as diabetes mellitus or hypothyroidism.


The abbreviation "LHON" stands for Leber's hereditary optic neuropathy - a disease of the optic nerve (optic nerve).

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Mitochondrial disease: causes and risk factors

Changes in the mitochondrion as a cause

In mitochondriopathy, the so-called mitochondrial respiratory chain is altered. It consists of various proteins (proteins) and serves as the main energy supplier of the body. The genome contains information about how these proteins should be shaped and functioned. If damage occurs there (mutations), the proteins are not produced or built incorrectly. The respiratory chain then does not work properly and the energy supply is disturbed. Accordingly, the effects of mitochondriopathy primarily affect organs that require a lot of energy. These include, for example, the brain, the eye muscles or the skeletal muscles.

How changes happen

Mitochondrial disease can be inherited as well as sporadic, without hereditary preoccupation. In most cases, mitochondrial disorders have a sporadic change. If they are inherited, the mutation usually starts from the mother. Since the paternal sperm leaves its mitochondria behind during fertilization of the egg, later all mitochondria of the child come from the egg cell.

In addition, there are mitochondria in an ovum with various genetic information that can mutate only partially (heteroplasmy). Depending on how many mitochondria of the egg cell were changed and in which organs they occur in the child, corresponding symptoms and organ involvement show.

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Mitochondriopathy: examinations and diagnosis

Mitochondriopathy: First steps to diagnosis

To diagnose "mitochondriopathy," your doctor will first ask you in detail about the history of the disease (anamnesis). He will ask you the following questions:

  • When did the symptoms first appear?
  • Are the symptoms stronger under stress?
  • Do you experience muscle aches?
  • Do epileptic seizures occur?
  • Is a family member suffering from similar symptoms?
  • Is there a hereditary disease in your family?

Only if the symptoms confirm the suspicion of mitochondriopathy, further investigations are carried out. These should take place in specialized centers.

Blood tests are used to determine metabolites, such as milk sugar (lactate). If it is suspected that certain organs have been affected by mitochondrial disease, the doctor may initiate an electrocardiogram (ECG) or a cardiac encephalogram. The ophthalmologist makes an eye test and assesses the fundus. Magnetic resonance imaging (MRI) can detect damage to the brain.

In the further course, the concentrations of the hormones in the body should be regularly determined, since in patients with mitochondriopathy more frequent hormonal diseases such as diabetes mellitus or hyperparathyroidism (parathyroid disease) occur.

A muscle biopsy provides information

The doctor can safely diagnose mitochondrial disease by taking a tissue sample from a muscle (muscle biopsy) under local anesthesia. Subsequently, a pathologist examines the sample under a microscope. In addition, experts can analyze the genome (DNA) of muscle cells and track down the mutation.