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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Pearson syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Accessia Health Foundation
Accessia Health pioneered the patient assistance model for people living with chronic medical conditions. We provide financial assistance to pay for prescriptions, medical treatments and expenses, travel and insurance premiums. Our program services include healthcare education, specialized legal services, and case management. We’re leveraging our three decades of our entrepreneurial spirit to expand patient assistance support to serve today’s healthcare consumers. Serving diverse populations is our #1 goal and we seek partners who share our belief that all people deserve to have access to healthcare. Over $1.1 billion has been distributed to patients throughout the country, helping them navigate their way through the complexities of the healthcare system. You can help us do even more.
Care-for-Rare America Inc
To establish a global alliance in order to identify the genetic causes of rare diseases and develop effective treatments, following a three-stage approach: recognize, understand, cure.
Cure Mito Foundation
Our mission is to empower families to come together with a common goal of finding treatments, and ultimately a cure, for this devastating disease.
CureARS
Fund research for 19 mt-aars conditions and provide patient support.
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
HypoPARAthyroidism Association, Inc
Our vision is a world without hypoPARAthyroidism. We work to improve the lives of people impacted by hypoPARAthyroidism through education, support, research, and advocacy.
Immune Deficiency Foundation
To improve the diagnosis, treatment and quality of life of people affected by primary immunodeficiency.
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Mississippi Metabolics Foundation
Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.
MitoAction
MitoAction’s mission is to improve the quality of life for children, adults, and families living with mitochondrial disease through support, education, outreach, advocacy, clinical research initiatives and by granting wishes for children affected by mitochondrial disease.
MitoCanada
MitoCanada's mission is to create a world where all lives are powered by healthy mitochondria. We are dedicated to supporting Canadians living with mitochondrial disease by developing education and awareness programs, advocating to improve the health and quality of life of those living with mito at provincial and federal levels, and we fund research that is patient-focused and transformational.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
The Champ Foundation
The Champ Foundation supports research toward better treatment and a cure for single large-scale mitochondrial deletion syndromes (SLSMDS), like Pearson syndrome.
The Mito Foundation
Mito Foundation is Australia’s peak body dedicated to supporting and empowering people affected by mitochondrial disease (mito). Our mission is to be the catalyst of energy, hope and cures for every Australian impacted by mito. Mito is a debilitating genetic disorder that robs the body’s cells of energy, causing single or multiple organ dysfunction or failure, and in many instances death.
Ukrainian Association of Pediatric Immunology
Development of pediatric and clinical immunology in Ukraine. Raising awareness of inborn errors of immunity in Ukraine and rare immune diseases; Advocacy campaigns supporting patients with rare immune diseases and their treatment plans; Scientific research; Sharing knowledge about immunoprophylaxis; Advocacy campaigns supporting immunoprophylaxis.
United Mitochondrial Disease Foundation (UMDF)
Promoting research and education for the diagnosis, treatment and cure of mitochondrial disorders and to provide support to affected individuals and families. We are driven by a nationwide community of ambassadors solely focused on supporting patients and families affected by mitochondrial disease. We are committed and energized to make a difference by funding the best science in the world.
Youth And Women for Opportunities Uganda-YWOU
Our mission supports Rare, orphan and undiagnosed diseases diagnosis, care and treatment, education, awareness and empowering health care professionals and patients care takers of rare, orphan and undiagnosed diseases arena in Uganda, build capacity and bridge lack of clinical knowledge and experience and provide search/quest for diagnostic laboratories, I advocate for changes in laws, practices
Clinical Trials
For a list of clinical trials in this disease area, please click here.