Pearson syndrome
ORPHA:699· ICD-10 D64.0
Definition
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.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Mitochondrial inheritance, Not applicable
- Age of onset
- Childhood, Infancy, Neonatal