This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|Percent of people who have these symptoms is not available through HPO|
|Cytochrome C oxidase-negative muscle fibers||0003688|
|Decreased liver function||
|Failure to thrive||
Weight faltering[ more ]
Decreased muscle tone
Low muscle tone[ more ]
|Global developmental delay||0001263|
High urine phosphate levels
|Increased CSF lactate||0002490|
|Increased hepatocellular lipid droplets||0006565|
|Increased intramyocellular lipid droplets||0012240|
|Increased serum lactate||0002151|
Mental retardation, nonspecific
Mental-retardation[ more ]
High urine protein levels
Protein in urine[ more ]
Drooping upper eyelid
|Renal tubular dysfunction||0000124|
Difficulty breathing[ more ]
|Respiratory insufficiency due to muscle weakness||0002747|
|Sensorineural hearing impairment||0000407|
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
New NCATS Rare Diseases Research Video
December 27, 2017
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
Nutritional Interventions in Primary Mitochondrial Disorders: Developing an Evidence Base
Tuesday, December 2, 2014 -
Wednesday, December 3, 2014
Location: NIH Campus, Bethesda, MD
Description: The goal of this meeting is to explore the use of nutritional interventions, including dietary supplements, in primary mitochondrial disorders (PMD); identify gaps in knowledge; develop a research agenda; and identify research opportunities to promote an evidence base for the use of nutritional interventions in primary mitochondrial disorders.
Contact: Kathryn Camp, MS, RD, CSP,(301) 435-3608, firstname.lastname@example.org
Co-funding Institute(s): Office of Dietary Supplements, Office of Rare Diseases Research
2013 Neurobiology of Disease in Children Symposium: Mitochondrial Disease
Wednesday, October 30, 2013 -
Wednesday, October 30, 2013
Location: Austin, TX
Description: The topic for the 2013 NDC Symposium is Mitochondrial Disease. The NDC Symposium is a forum for preeminent investigators assembled to discuss recent accomplishments and future directions with a large group of child neurologists, program officers from the National Institutes of Health, and members of dedicated foundations and associations.
Co-funding Institute(s): National Institute of Neurological Disorders and Stroke, Office of Rare Diseases Research
Mitochondrial Biology in Cardiovascular Health and Disease—New Mechanistic Insights and Therapeutics Developments Monday, October 6, 2008 -
Tuesday, October 7, 2008
Location: Natcher Auditorium, NIH, Bethesda, MD
Description: Goals of this conference were to (1) catalyze a field of mitochondrial research; (2) identify funding goals and mechanisms for funding mitochondrial work; (3) accelerate translation of mitochondrial-directed therapy to orphan diseases; (4) publish the results of the meeting in Cell Metabolism, Nature Medicine, or JAMA; and (5) publish a book with contributions from speakers at this meeting.
Contact: Michael N. Sack, M.D., Ph.D., NHLBI(301) email@example.com
Co-funding Institute(s): National Heart, Lung, and Blood Institute
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
Are there any cures or treatments for mitochondrial complex IV deficiency in a child of 18 months? See answer
I am a healthcare provider for a 4-year-old girl with cytochrome C oxidase deficiency. How does this condition manifest? What is the life expectancy for a child with this diagnosis? She continues to gain new skills, but will she at some point show a regression in skills? She is diagnosed as having cortical visual impairment, though she continues to rely on her vision to gain information about her environment. Will she eventually go completely blind? See answer