ReviewOrphanet journal of rare diseases2022
Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure.
Review in Orphanet journal of rare diseases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
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Who cites it
43 citing papers in PubMed, 67 citations in OpenAlex.
- Autophagy Defects and Mitochondrial Retention in Erythroid Diseases.International journal of molecular sciences · 2026Review
- Pearson syndrome: expanding the clinical spectrum of a mitochondrial cytopathy-a case report.Journal of medical case reports · 2026Article
- Emerging therapeutic strategies for mitochondrial DNA-related diseases.Cell reports. Medicine · 2026Review
- Transient muscle expression of mitoARCUS in mice leads to sustained reductions in pathogenic mtDNA and reduces fatigability.Molecular therapy : the journal of the American Society of Gene Therapy · 2026Article
- Pathogenic roles of the IMNEPD-associated PTRH2 mutants in aggravating mitochondrial dynamics and its rescue.Molecular medicine (Cambridge, Mass.) · 2026Article
- Mesenchymal Stromal Cells and Extracellular Vesicles: A Novel Therapeutic Paradigm for Mitochondrial Dysfunctions.International journal of molecular sciences · 2026Review
- Mitochondrial Transplantation as a Therapeutic Strategy for Inherited Mitochondrial Diseases.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Review
- Pancreatic involvement inMolecular genetics and metabolism reports · 2025Article
- Integrative bioinformatics and machine learning approach unveils potential biomarkers linking coronary atherosclerosis and glutamine metabolism-associated gene.Journal of cardiothoracic surgery · 2025Article
- Identification of a NovelGenes · 2025Article
- The Usefulness of Basic Laboratory Analyses in Diagnostics of Inherited Metabolic Diseases in Children.Diagnostics (Basel, Switzerland) · 2025Review
- Neuroimaging characteristics of single Large-Scale mitochondrial DNA deletion syndromes.Neuroradiology · 2025Article
- Absolute quantification of TCA cycle intermediates in mouse ocular tissues reveals distinct tissue- and sex-specific mitochondrial metabolism.bioRxiv : the preprint server for biology · 2025Article
- Mitochondrial and photosynthetic therapy: A crucial strategy for remodeling cellular metabolic function.Bioengineering & translational medicine · 2025Review
- Single large-scale mitochondrial DNA deletion syndromes: scientific and family conference optimizes the collection of rare disease research outcomes.Orphanet journal of rare diseases · 2025Article
- Endocrine Abnormalities and Growth Pattern in Single Large-Scale Mitochondrial DNA Deletion Syndromes.Acta paediatrica (Oslo, Norway : 1992) · 2025Article
- Anemia Due to Unexpected Zinc-Induced Copper Deficiency.Hematology reports · 2025Article
- Hematological phenotypes in GATA2 deficiency syndrome arise from aging, maladaptation to proliferation, and somatic events.Blood advances · 2025Article
- Single Large-Scale Mitochondrial Deletion Syndromes: Neuroimaging Phenotypes and Longitudinal Progression in Pediatric Patients.AJNR. American journal of neuroradiology · 2025Article
- Review
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pearson syndrome (PS) is a rare fatal mitochondrial disorder caused by single large-scale mitochondrial DNA deletions (SLSMDs). Most patients present with anemia in infancy. Bone marrow cytology with vacuolization in erythroid and myeloid precursors and ring-sideroblasts guides to the correct diagnosis, which is established by detection of SLSMDs. Non hematological symptoms suggesting a mitochondrial disease are often lacking at initial presentation, thus PS is an important differential diagnosis in isolated hypogenerative anemia in infancy. Spontaneous resolution of anemia occurs in two-third of patients at the age of 1-3 years, while multisystem non-hematological complications such as failure to thrive, muscle hypotonia, exocrine pancreas insufficiency, renal tubulopathy and cardiac dysfunction develop during the clinical course. Some patients with PS experience a phenotypical change to Kearns-Sayre syndrome. In the absence of curative therapy, the prognosis of patients with PS is dismal. Most patients die of acute lactic acidosis and multi-organ failure in early childhood. There is a great need for the development of novel therapies to alter the natural history of patients with PS.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.