Frequently Asked Questions

  • Pale skin and fatigue due to underproduction of red blood cells (anemia)
  • Frequent infections due to underproduction of white blood cells (neutropenia)
  • Bleeding due to underproduction of blood platelets (thrombocytopenia)
  • Frequent diarrhea
  • Stomach pain
  • Poor growth, difficulty gaining weight or failure to thrive
  • Muscle weakness
  • Liver problems
  • Diabetes mellitus

Because it is so rare, many tests may be needed to diagnose Pearson syndrome. Diagnosis of Pearson syndrome can be done via a bone marrow biopsy, urine test, or stool sample testing. Genetic testing can be also be performed to confirm the diagnosis.

Yes,  it’s 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 part of our DNA is contained in a part of our cells called the mitochondria.

Genetic counseling is the process of providing individuals and families with information on the nature and implications of genetic disorders to help them make informed medical and personal decisions. Counseling helps with genetic risk assessment and the use of family history and genetic testing to clarify genetic status for family members; it is not meant to address all personal, cultural, or ethical issues that may arise.

  • Replacement of deficient pancreatic enzymes in Pearson syndrome and KSS
  • Transfusion therapy for individuals with Pearson syndrome with sideroblastic anemia

Unfortunately, there is no cure for Pearson syndrome, and the goal of existing treatments is to decrease symptoms to improve quality of life. Children affected by Pearson syndrome may require frequent blood transfusions to help supply the body with healthy red blood cells

Medications to avoid include those potentially toxic to mitochondria, including chloramphenicol, aminoglycosides, linezolide, valproic acid, and nucleoside reverse transcriptase inhibitors. Volatile anesthetic hypersensitivity may occur.

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