Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Synonyms: COXPD10 | Combined oxidative phosphorylation defect type 10
A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis hypotonia hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties failure to thrive seizures optic atrophy and ataxia.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
Newly diagnosed with
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency?
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Hypertrophic Cardiomyopathy Association
Providing support, advocacy, and education to patients, families, the medical community, and the public about hypertrophic cardiomyopathy, while supporting research and fostering the development of treatments.
Fund research for 19 mt-aars conditions and provide patient support.
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.
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.
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.
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.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Heart of a Giant Foundation
The mission of the HGF is to achieve better health outcomes for heart diseases and related chronic health conditions in our communities and enhance the quality of life through health education, care support, and connection to community resources.
My Faulty Gene
My Faulty Gene is a nonprofit organization which provides information and assistance to any individual whose family medical history suggests genetic testing might be helpful in identifying an increased risk of disease due to a genetic mutation. We believe that everyone in need of genetic testing should have access to it.
Mississippi Metabolics Foundation
Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
For a list of clinical trials in this disease area, please click here.