Pearson syndrome

What causes Peason syndrome?

Pearson syndrome is a genetic disease, meaning that it is caused by a problem in the DNA . Most DNA is contained in the center of our cells (nuclear DNA ), but a small portion of our DNA is contained in a part of our cells called the mitochondria. Mitochondria make the energy for the cells in our body by combining oxygen with sugars and fats that come from the food we eat.

Changes in mitochondrial DNA make it hard for the cell to make energy. Pearson syndrome is usually caused by deletions of a part of the mitochondrial DNA (pieces of the DNA are missing). Most cases of Pearson syndrome occur by mistake, when the egg or sperm were being made (de novo mutation). This means that the disease was not passed down or inherited from either parent and no other family member has the disease.

DNA contains genes which are the instructions (genetic code) the cell uses to make proteins. Proteins do most of the work in cells of our body. Many of the proteins coded by the genes in the mitochondrial DNA are needed to help make energy. When pieces of mitochondrial DNA are missing, important genes are missing, so the cell does not make energy like it should.

Last updated on 05-01-20

How is Pearson syndrome diagnosed?

Many tests may be needed to diagnose Pearson syndrome, including a bone marrow biopsy to look for signs of sideroblastic anemia or a bowel movement sample to measure the amount of fat in the stool. The doctors may also test the urine to check for certain organic acids which would be a sign of metabolic acidosis. Finally, genetic testing for changes or mutations in mitochondrial DNA would confirm the diagnosis. The results of the genetic test may be especially important. Although Pearson syndrome is usually caused by deletions of mitochondrial DNA, duplication of mitochondrial DNA can also cause symptoms of Pearson syndrome. Whether the condition is caused by a deletion or duplication of DNA may affect how the disease progresses.

Last updated on 05-01-20

What is the long-term outlook for Pearson syndrome?

Unfortunately, the prognosis for Pearson syndrome is not good. Pearson syndrome usually causes a baby to die while still an infant. If a child lives past infancy, he or she may begin to have fewer symptoms of Pearson syndrome, and the symptoms may be less severe. Many of the children who survive past age 4 go on to have symptoms of a different disease called Kearns-Sayre syndrome. This disease is more likely to affect the brain, spinal cord, and nerves. Symptoms of Kearns-Sayre syndrome include weak eye muscles and difficulty coordinating movements. It is important for a child with Pearson syndrome to be monitored by their doctors for any changes in symptoms as they get older.

Last updated on 05-01-20

How might Pearson syndrome be treated?

Unfortunately, there is no cure for Pearson syndrome, and the goal of treatment is to decrease the seriousness of symptoms so the child can live as healthy and as long of a life as possible. Children affected by Pearson syndrome may require frequent blood transfusions to help supply the body with healthy red blood cells. Pancreatic enzyme replacement may also help to replace the missing enzymes needed to digest food, or insulin injections may be necessary to treat diabetes. It is important that children affected by Pearson syndrome avoid other people who are sick with viral or bacterial infections, as these children cannot fight off illnesses as well as other children can. Other treatments depend on the specific symptoms presented by each person with Pearson syndrome. It may be necessary to see specialists for the liver, kidneys, heart, and pancreas. Physical or occupational therapy may be helpful, especially in children who live past infancy.

Unfortunately, a stem cell transplant has not been shown to be helpful in curing a disease that affects many systems in the body like Pearson syndrome does. It is, however, important to ask your doctors about any new or promising treatments for Pearson syndrome.

Last updated on 05-01-20

Name: United Mitochondrial Disease Foundation 8085 Saltsburg Road, Suite 201
Pittsburgh, PA, 15239 , United States
Phone: +1-412-793-8077 Toll Free: 1-888-317-8633 Fax : +1-412-793-6477 Email: Url:
Name: The Mitochondria Research and Medicine Society PO Box 55322
Birmingham, AL,
Phone: 716-907-4349 Fax : 716-845-1047 Email: Url:
Name: MitoAction PO Box 51474
Boston, MA, 02205, United States
Phone: 1-888-MITO-411 (648-6411) for support line Toll Free: 1-888-648-6228 Email: Url:
Name: European Network for Rare and Congenital Anaemias (ENERCA) University of Barcelona Red Cell Pathology Unit
C/Villarroel, 170 - 08036 Barcelona
Phone: (34) 93 451 5950 Fax : (34) 93 227 1764 Email: Url:
Name: The Champ Foundation 2712 Little Rogers Rd
Durham, NC, 27704,
Phone: (727) 871-2667 Email: Url:

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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