Pearson syndrome

Pearson syndrome is a mitochondrial disease characterized by sideroblastic anemia and exocrine pancreas dysfunction.

Pearson syndrome is very rare: fewer than a hundred cases have been reported in medical literature worldwide.

[2] Pearson syndrome is a very rare mitochondrial disorder characterized by health conditions such as sideroblastic anemia, liver disease and exocrine pancreas deficiency.

[4] Even though prenatal testing for Pearson syndrome is theoretically possible, analyzing and interpreting the results would be extremely difficult.

[5] With the use of molecular genetic testing, the deletions of mitochondrial DNA with Pearson syndrome range in size from 1.1 to 10 kilobases.

Genetic testing is also an option in which identifying mutations in mitochondrial DNA, specifically deletions or duplications, would confirm the diagnosis of Pearson syndrome.

Minovia Therapeutics is the first company[citation needed] to conduct a designated clinical trial for treating patients affected by this disease.