Conditions / Genetic

Pearson syndrome

info · Genetic

A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction.

Signs and symptoms

Type I diabetes mellitus
Hypoplastic anemia
Complex organic aciduria
Metabolic acidosis
3-Methylglutaric aciduria
Small for gestational age
Renal Fanconi syndrome
Hepatomegaly
Anemia
Hepatic failure

Also known as: Pearson Marrow-Pancreas Syndrome