Pearson marrow-pancreas syndrome
Type of disease: Rare conditions
Pearson syndrome is a mitochondrial disorder characterized by transfusion-dependent sideroblastic anemia and pancreatic dysfunction resulting in in malabsorption and chronic diarrhea. The features of this progressive disorder may change over time. Individuals who survive beyond infancy often develop the symptoms of Kearns-Sayre syndrome or Leigh syndrome. Pearson syndrome is caused by deletions in mitochondrial DNA. Inheritance is usually sporadic. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.