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Disease Profile

Mitochondrial complex I deficiency

Prevalence
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.

Unknown

Age of onset

All ages

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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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Other names (AKA)

Complex 1 mitochondrial respiratory chain deficiency; NADH coenzyme Q reductase deficiency; Mitochondrial NADH dehydrogenase component of complex I, deficiency of;

Categories

Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases

Summary

Mitochondrial complex I deficiency is a type of mitochondrial disease. Mitochondria are specialized compartments in cells that create more than 90% of the energy needed by the body. In mitochondrial diseases, the mitochondria don't work correctly resulting in less energy in the cell, cell injury and cell death. Complex I is the first step in a chain reaction in mitochondria leading to energy production. Signs and symptoms of complex I deficiency vary widely in nature and severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Features may include macrocephaly (large head) with progressive leukodystrophy, encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. The disease is caused by mutations in any of many genes and the inheritance pattern depends on the responsible gene. Treatment is only helpful in some case but may include metabolic therapies such as riboflavinthiaminebiotinco-enzyme Q10carnitine, and a ketogenic diet (a special high-fat, low-carbohydrate diet). [1][2]

Symptoms

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
100% of people have these symptoms
Decreased activity of mitochondrial complex I
0011923
80%-99% of people have these symptoms
Abnormal mitochondria in muscle tissue
0008316
Ataxia
0001251
Encephalopathy
0001298
Failure to thrive
Faltering weight
Weight faltering

[ more ]

0001508
Focal T2 hyperintense brainstem lesion
0012748
Global developmental delay
0001263
Hepatomegaly
Enlarged liver
0002240
Hypertrophic cardiomyopathy
Enlarged and thickened heart muscle
0001639
Hypoglycemia
Low blood sugar
0001943
Increased CSF lactate
0002490
Increased serum pyruvate
0003542
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation

[ more ]

0001511
Lactic acidosis
Increased lactate in body
0003128
Lethargy
0001254
Leukodystrophy
0002415
Leukoencephalopathy
0002352
Mitochondrial myopathy
0003737
Muscular hypotonia
Low or weak muscle tone
0001252
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Optic disc pallor
0000543
Optic neuropathy
Damaged optic nerve
0001138
Paroxysmal involuntary eye movements
0007704
Poor eye contact
0000817
Poor head control
0002421
Proximal tubulopathy
0000114
Ptosis
Drooping upper eyelid
0000508
Respiratory insufficiency
Respiratory impairment
0002093
Sensorineural hearing impairment
0000407
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486
Vomiting
Throwing up
0002013
5%-29% of people have these symptoms
Blindness
0000618
Diabetes mellitus
0000819
Feeding difficulties
Feeding problems
Poor feeding

[ more ]

0011968
Fetal distress
0025116
Microcephaly
Abnormally small skull
Small head circumference
Reduced head circumference
Decreased size of skull
Decreased circumference of cranium

[ more ]

0000252
Percent of people who have these symptoms is not available through HPO
Acute necrotizing encephalopathy
0006965
Autosomal recessive inheritance
0000007
Babinski sign
0003487
Cerebellar atrophy
Degeneration of cerebellum
0001272
Cerebral edema
Swelling of brain
0002181
Coma
0001259
Decreased activity of mitochondrial respiratory chain
0008972
Developmental regression
Loss of developmental milestones
Mental deterioration in childhood

[ more ]

0002376
Dyskinesia
Disorder of involuntary muscle movements
0100660
Exercise intolerance
Decreased ability to exercise
Inability to exercise

[ more ]

0003546
Feeding difficulties in infancy
0008872
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

0001290
Growth delay
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth

[ more ]

0001510
Hepatic failure
Liver failure
0001399
Hyperreflexia
Increased reflexes
0001347
Hyporeflexia
Decreased reflex response
Decreased reflexes

[ more ]

0001265
Infantile onset
Onset in first year of life
Onset in infancy

[ more ]

0003593
Mitochondrial inheritance
0001427
Progressive macrocephaly
Progressively abnormally enlarging cranium
Progressively abnormally enlarging skull

[ more ]

0004481
Respiratory failure
0002878
Seizure
0001250
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting

[ more ]

0003202
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
X-linked dominant inheritance
0001423 <

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 Providing General Support

      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 I 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 I deficiency. Click on the link to view a sample search on this topic.

          References

          1. Cassandra L. Kniffin. MITOCHONDRIAL COMPLEX I DEFICIENCY. OMIM. September 17, 2013; https://www.omim.org/entry/252010. Accessed 4/18/2014.
          2. Types of Mitochondrial Disease. United Mitochondrial Disease Foundation. https://www.umdf.org/site/pp.aspx?c=8qKOJ0MvF7LUG&b=7934629. Accessed 4/18/2014.
          3. Patrick F Chinnery. Mitochondrial Disorders Overview. GeneReviews. September 16, 2010; https://www.ncbi.nlm.nih.gov/books/NBK1224/. Accessed 4/22/2014.
          4. Fassone E, Rahman S. Complex I deficiency: clinical features, biochemistry and molecular genetics. J Med Genet. September, 2012; 49(9):578-590. Accessed 4/22/2014.

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