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Disease Profile
Mitochondrial complex III deficiency
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
0
Age of onset
Neonatal
ICD-10
G71.3
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Complex 3 mitochondrial respiratory chain deficiency
Categories
Congenital and Genetic Diseases; Metabolic disorders
Summary
Mitochondrial complex III deficiency is one of several conditions caused by dysfunction of
Symptoms
The most severe form begins in infancy and causes life-threatening muscle and nervous system dysfunction (encephalomyopathy), lactic acidosis at birth,
In some individuals, encephalomyopathy does not begin until childhood or adulthood. For these individuals, symptoms may include various combinations of weakness,
Individuals with a less severe type may have myopathy with exercise intolerance that progresses to general weakness. Ragged-red fibers and lactic acidosis may be present.[5]
A fourth described form is characterized by infantile histiocytoid cardiomyopathy.[5] This is a condition characterized by cardiomegaly (enlarged heart), severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like
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 |
Learn More:
HPO ID
|
---|---|---|
5%-29% of people have these symptoms | ||
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of the abdominal wall | 0004298 | |
Abnormality of the coagulation cascade | 0003256 | |
Aminoaciduria |
High urine amino acid levels
Increased levels of animo acids in urine
[ more ] |
0003355 |
Ataxia | 0001251 | |
0000007 | ||
Brittle hair | 0002299 | |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
Cholangitis |
Bile duct inflammation
|
0030151 |
Cholestasis |
Slowed or blocked flow of bile from liver
|
0001396 |
Decreased liver function |
Liver dysfunction
|
0001410 |
Decreased mitochondrial complex III activity in liver |
0006558 | |
Depressivity |
Depression
|
0000716 |
0002353 | ||
Elevated hepatic transaminase |
High liver enzymes
|
0002910 |
Emotional lability |
Emotional instability
|
0000712 |
Exercise intolerance |
Decreased ability to exercise
Inability to exercise
[ more ] |
0003546 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Feeding difficulties in infancy | 0008872 | |
Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Global |
0001263 | |
Hallucinations |
Hallucination
Sensory hallucination
[ more ] |
0000738 |
Hyperreflexia |
Increased reflexes
|
0001347 |
Hypertrophic |
Enlarged and thickened heart muscle
|
0001639 |
Low blood sugar
|
0001943 | |
Increased serum lactate | 0002151 | |
Infantile onset |
Onset in first year of life
Onset in infancy
[ more ] |
0003593 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Lactic acidosis |
Increased lactate in body
|
0003128 |
Metabolic acidosis | 0001942 | |
Microvesicular hepatic steatosis | 0001414 | |
Mitochondrial |
0006789 | |
0001427 | ||
Muscle weakness |
Muscular weakness
|
0001324 |
Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
Ragged-red muscle fibers | 0003200 | |
Rhabdomyolysis |
Breakdown of skeletal muscle
|
0003201 |
Rod-cone dystrophy | 0000510 | |
Seizure | 0001250 | |
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |
Tubulointerstitial nephritis | 0001970 |
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Organizations
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.
Organizations Supporting this Disease
-
The Mitochondria Research and Medicine Society
PO Box 55322
BLSC Building, Room # 3-316
Elm and Carlton Streets
Birmingham, AL
Telephone: 716-907-4349
Fax: 716-845-1047
E-mail: [email protected]
Website: https://www.mitoresearch.org
Organizations Providing General Support
-
MitoAction
PO Box 310
Novi, MI 48376
Toll-free: 888-648-6228
E-mail: [email protected]
Website: https://www.mitoaction.org/ -
Muscular Dystrophy Association (MDA)
222 S Riverside Plaza
Suite 1500
Chicago, IL 60606
Toll-free: 1-833-275-6321 (Helpline)
E-mail: [email protected]
Website: https://www.mda.org -
United Mitochondrial Disease Foundation
8085 Saltsburg Road, Suite 201
Pittsburgh, PA 15239
Toll-free: 1-888-317-8633
Telephone: +1-412-793-8077
Fax: +1-412-793-6477
E-mail: [email protected]
Website: https://www.umdf.org
Learn more
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.
Where to Start
- MedlinePlus Genetics contains information on Mitochondrial complex III deficiency. This website is maintained by the National Library of Medicine.
In-Depth Information
- GeneReviews provides a current, expert-authored, peer-reviewed, full-text article on mitochondrial disorders. GeneReview articles describe the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Mitochondrial complex III deficiency. Click on the link to view a sample search on this topic.
References
- Overview of Mitochondrial Diseases. NAMDC. https://rarediseasesnetwork.epi.usf.edu/NAMDC/learnmore/index.htm. Accessed 4/3/2011.
- Cassandra L. Kniffin. MITOCHONDRIAL COMPLEX III DEFICIENCY. OMIM. November 29, 2010; https://www.ncbi.nlm.nih.gov/omim/124000. Accessed 4/3/2011.
- Treatments & Therapies. United Mitochondrial Disease Foundation. https://www.umdf.org/site/c.otJVJ7MMIqE/b.5692887/k.6686/Treatments__Therapies.htm. Accessed 4/3/2011.
- Facts About Mitochondrial Myopathies. Muscular Dystrophy Association. April 2010; https://www.mdausa.org/publications/mitochondrial_myopathies.html#whatare. Accessed 4/4/2011.
- Types of Mitochondrial Disease. United Mitochondrial Disease Foundation. https://www.umdf.org/site/c.otJVJ7MMIqE/b.5692881/k.4B7B/Types_of_Mitochondrial_Disease.htm#Complex3. Accessed 4/4/2011.
- Histiocytoid cardiomyopathy. Orphanet. May 2008; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=137675. Accessed 8/29/2011.
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