Pearson syndrome


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Pearson syndrome

[MIM #557000] Sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction; usually lethal in infancy.

Pearson syndrome

A mitochondrial disease characterized by early onset BM dysfunction leading to pancytopenia & pancreatic failure, which may progress to Kearns-Sayre syndrome. See Mitochondrial disease.

Pearson,

H.A.,
Pearson syndrome - refractory sideroblastic anemia; malabsorption or other pancreatic exocrine insufficiency.
References in periodicals archive ?
March 17, 2014 /PRNewswire/ -- Edison Pharmaceuticals today announced the initiation of a phase 2 study entitled "A Phase 2 Safety and Efficacy Study of EPI-743 (Vincerinone(TM)) in Children with Pearson Syndrome.
Given the rarity of Pearson syndrome, the study is a single arm design, and is being conducted at multiple sites worldwide.
Given the notable hematologic derangements associated with the syndrome, Edison has submitted the Pearson syndrome IND to the Office of Hematology and Oncology Products.
3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects.
Blood spots have also been used for screening patients at risk for mitochondrial disorders such as medium-chain acyl-CoA dehydrogenase deficiency (19,20) and Pearson syndrome, a multisystem juvenile disorder associated with deletions in the mitochondrial genome (21).
Detection of mtDNA deletion in Pearson syndrome by two independent PCR assays from Guthrie card.

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