Pearson syndrome

What is Pearson syndrome?

A rare mitochondrial oxidative phosphorylation disorder due to large-scale single deletion of mitochondrial DNA characterized by hyporegenerative anemia in early infancy with vacuolization of bone marrow precursors, lactic acidosis and multi-organ dysfunctions such as exocrine pancreatic dysfunction, and renal tubulopathy.

Inheritance type

Mitochondrial inheritance, Not applicable

Prevalence

  • Worldwide: <1 in 1,000 000

Age of Onset

  • Infancy
  • Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.