Inheritance is usually sporadic. They may be able to refer you to someone they know through conferences or research efforts. If you can’t find a specialist in your local area, try contacting national or international specialists. We use cookies to ensure you get the best experience on our website. Also pigmentary retinopathy and peripheral neuropathy. Another key goal in mitochondrial disease is to understand the tissue specificity associated with specific mitochondrial genotypes. Mitochondrial disease refers to a group of disorders caused by genetic mutations that affect the mitochondria (the structures in each cell of your body, except your red blood cells, that are responsible for making energy). 77 Regardless, by their very nature, these diseases often progress. They are often suspected in people who have a condition that effects multiple, unrelated systems of the body. Autosomal dominant is one of several ways that a trait or disorder can be passed down (inherited) through families. KSS Long name: Kearns-Sayre Syndrome KSS is a slowly progressive multi-system mitochondrial disease that often begins with drooping of the eyelids (ptosis). Links:... Pearson Syndrome Symptoms: Bone marrow and pancreas dysfunction Cause: Single mitochondrial DNA deletions. LBSL â LeukodystrophyLeukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) is a result of a DARS2 gene mutation and is characterized by slowly progressive cerebellar ataxia and spasticity with dorsal column dysfunction (decreased... LCAD Long Name: Long-Chain Acyl-CoA Dehydrongenase Deficiency Symptoms: Usually causes a fatal syndrome, in infants, typified by failure to thrive, enlarged liver, enlarged heart, metabolic encephalopathy, and hypotonia. In most cases, mitochondrial disease is a multisystem disorder affecting more than one type of cell, tissue, or organ. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care. The failure of mitochondrial biogenesis to occur has been implicated as a leading factor for many metabolic problems including myopathy, diabetes, Alzheimer’s disease as well as age related complications (1, 8). Mitochondrial inheritance: The inheritance of a trait encoded in the mitochondrial genome. If you have problems viewing PDF files, download the latest version of Adobe Reader, For language access assistance, contact the NCATS Public Information Officer, Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 - Toll-free: 1-888-205-2311. Multifactorial inheritance disorder, 3. CPT I Deficiency Symptoms: Enlarged liver and recurrent Reye-like episodes triggered by fasting or illnesses Cause: Autosomal recessive Treatment: Medium-chain triglycerides... Creatine Deficiency SyndromesAdditional names: Cerebral Creatine Deficiency Syndromes (CCDS) includes: Guanidinoaceteate Methyltransferase Deficiency (GAMT Deficiency), L-Arginine:Glycine Amidinotransferase Deficiency (AGAT Deficiency), and SLC6A8-Related Creatine... Co-Enzyme Q10 DeficiencySymptoms: Encephalomyopathy, mental retardation, exercise intolerance, ragged-red fibers, and recurrent myoglobin in the urine Cause: Probably autosomal recessive Treatment: Administration of Co-enzyme Q10 Links:... CPEO Long Name: Chronic Progressive External Ophthalmoplegia Syndrome Symptoms: Similar to those of KSS plus: visual myopathy, retinitis pigmentosa, dysfunction of the central nervous system Cause: Single mitochondrial DNA deletions. While some conditions may only affect a single, Mitochondrial genetic disorders can be caused by changes (, Unfortunately, mitochondrial genetic disorders can be difficult to diagnose, and many affected people may never receive a specific diagnosis. Some of the more common mitochondrial myopathies include Kearns-Sayre syndrome, myoclonus epilepsy with ragged-red fibers, and mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes. Treatment of mitochondrial disease is still in its infancy. Other eye muscles eventually become involved, resulting in paralysis of eye movement. MNGIE Long Name: Myoneurogastointestinal Disorder and Encephalopathy Symptoms: Progressive external ophthalmoplegia, limb weakness, peripheral neuropathy, digestive tract disorders, leukodystrophy, lactic acidosis, ragged red fibers New NIH link:... NARP Long Name: Neuropathy, Ataxia, and Retinitis Pigmentosa Cause: Mitochondrial DNA point mutations in genes associated with Complex V: T8993G, (also T8993C by some researchers). Links:... POLG Mutations See: Mitochondrial News Volume 14 Issue 2 See: POLG Related Disorders â https://www.ncbi.nlm.nih.gov/pubmed/20301791 NIH Link: https://ghr.nlm.nih.gov/gene/POLG, Pyruvate Carboxylase Deficiency Symptoms: Lactic acidosis, hypoglycemia, severe retardation, failure to thrive Common Symptoms: Seizures and spasticity Cause: Autosomal recessive Links: https://rarediseases.info.nih.gov/diseases/7512/pyruvate-carboxylase-deficiency. Leigh’s Disease 2. Cause: Autosomal recessive... To promote research and education for the diagnosis, treatment and cure of mitochondrial disorders and to provide support to affected individuals and families. MitoAction Mobile. A good example of this is the frequent isolated involvement of the optic nerve in patients with primary LHON mutations ( 5 ). Manage your day-to-day with mito, track symptoms, medications, and collaborate with your care team. It measures calcium fluctuations in the mitochondria to detect mitochondrial dysfunction. Research helps us better understand diseases and can lead to advances in diagnosis and treatment. You can help advance Its function depends on the basic functions of nuclear genes, including replication, translation, synthesis of most respiratory chain subunits, and assembly of respiratory chain complexes. These resources provide more information about this condition or associated symptoms. Mitochondria, are the organelles that generate energy for the cell and are found in every cell of the human body except red blood cells. They convert the energy of food molecules into the ATP that powers most cell functions. 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. Mitochondrial disorders can also lead to cognitive impairment and encephalopathy, resulting in blunted social interaction. Aside from symptom-based management, treatment of mitochondrial disease focuses on maintaining optimal health, using measures to reduce symptom flare-ups during physiologic stress (such as infection, dehydration or surgery), and avoiding mitochondrial toxins. TempoMito™ is an example of a genetically-coded biosensor. MitoAction provides a list of physicians offering care to patients with mitochondrial diseases. For example, a person with mitochondrial disease may suffer from seizures, fatigue, vision and hearing loss, cognitive disabilities, respiratory problems or poor growth. Contact a GARD Information Specialist. Mitochondrial disease is a group of disorders caused by mitochondrial dysfunction. As they grow older, adolescents and adults with Friedreich’s ataxia also develop insulin resistance, and their chance of … The symptoms of mitochondrial disease vary, because a person can have a unique mixture of healthy and defective mitochondria, with a unique distribution in the body. Chronic lactic acidosis is a common symptom of mitochondrial disease. Neonatal weakness, hypotonia requiring assisted... Mitochondrial Encephalopathy Includes: Encephalomyopathy, Encephalomyelopathy NIH Link: https://ghr.nlm.nih.gov/condition/mitochondrial-encephalomyopathy-lactic-acidosis-and-stroke-like-episodes. You may want to review these resources with a medical professional. Below are capsules of information categorized by Mitochondrial Disease type: Help advance progress towards better diagnosis, treatments and cures.Â. Mitochondrial disease, also called mitochondrial disorder, any of several hundred hereditary conditions that result from a functional failure of the mitochondrion, a type of cellular organelle.Mitochondrial diseases can emerge at any age and are enormously diverse in their clinical and molecular features. Do you know of a review article? rare disease research! We want to hear from you. The term Mitochondrial disease refers to a broad range of disorders, each of which involves a mitochondrial dysfunction, with many more believed to have yet to be discovered. VLCADLong Name: Very Long-Chain Acyl-CoA Dehydrogenase Deficiency Symptoms: Various manifestations, ranging from fatal infantile encephalopathy to recurrent myoglobin in the urine, similar to the myopathic form of CPT II deficiency. However, there are times when particular body systems are affected in a recognisable pattern and these have specific names, for example Alper's disease, Leigh’s disease, MELAS or MERRF. This chain is known as the Electron... Complex II Deficiency Long Name: Succinate dehydrogenase deficiency Symptoms: Encephalomyopathy and various manifestations, including failure to thrive, developmental delay, hyoptonia, lethargy, respiratory failure, ataxia, myoclonus. Each disorder produces a spectrum of symptoms and abnormalities that can be confusing to both patients and physicians. Cause: Autosomal recessive Treatment: See... MERRFLong Name: Myoclonic Epilepsy and Ragged-Red Fiber Disease Symptoms: Myoclonus, epilepsy, progressive ataxia, muscle weakness and degeneration, deafness, and dementia MERRF is a progressive multi-system syndrome usually beginning in childhood, but onset may occur... MELASLong Name: Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-like Episodes Symptoms: Short statue, seizures, stroke-like episodes with focused neurological deficits, recurrent headaches, cognitive regression, disease progression, ragged-red fibers MELAS... MEPAN Long Name: Mitochondrial Enoyl CoA Reductase Protein Associated Neurodegeneration MEPAN is caused by 2 mutations in the gene MECR (which encodes the protein mitochondrial trans-2-enoyl-coenzyme A-reductase), a newly described mitochondrial disease, which... MIRASLong Name: Mitochondrial Recessive Ataxia Syndrome. Mito411 Support. Those who survive infancy usually develop Kearns-Sayre Syndrome. Learn More. They range in severity from relatively mild disease that affects just a single … Cause: Unknown inheritance NIH Link:... MAD / Glutaric Aciduria Type II Long Name: Multiple Acyl-CoA Dehydrogenase Deficiency Cause: Defects of the flavoproteins responsible for transferring electrons (ETF or ETF-dehydrogenase) therefore affecting the function of all six ETF-funneling acyl-CoA... MCAD Long Name: Medium-Chain Acyl-CoA Dehydrongenase Deficiency Symptoms: Afflicts infants or young children with episodes of encephalopathy, enlarged and fatty degeneration of the liver, and low carnitine in the blood. Ragged-red fibers common.... Complex IV Deficiency / COX DeficiencyLong Name: Cytochrome c oxidase deficiency is caused by a defect in Complex IV of the respiratory chain. Mitochondrial dysfunction has been implicated in disorders such as copper-metabolism disorders (Wilson disease and Menkes disease), some lysosomal disorders, neonatal haemochromatosis, malnourished children, (with correction to normal levels after improved nutrition), cancer, Parkinson’s disease, Alzheimer’s, and heart disease. For example, mitochondrial disease is often included in the differential diagnosis of young stroke or progressive ataxia, but this is made more likely by a prior history of a typical mitochondrial feature such as ptosis, deafness, or diabetes in the patient or close relative. Genetic diseases and disorders are caused by a change in the DNA sequence. Cause: POLG mutation, Recessive... Mitochondrial DNA DepletionSymptoms: Three forms:Following normal early development until one year old, weakness appears and worsens rapidly, causing respiratory failure and death typically within a few years. There are many types of mitochondrial disease. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. Other examples of possible interventions include medications to treat, expand submenu for Find Diseases By Category, expand submenu for Patients, Families and Friends, expand submenu for Healthcare Professionals. We want to hear from you. An example of a phenocopy is Leigh syndrome, which can be caused by several different mutations. Physiological stress triggered by external factors (for example, fever, cold, heat, starvation, sleep deprivation) may result in a worsening of the metabolic situation which results in deterioration of affected organs. One woman shares her struggle with mitochondrial disease, a rare genetic mutation that makes her have seizures, muscle spasms, metabolic crashes, and feel cold all the time. For example, children with Friedreich’s ataxia, one form of mitochondrial disease, often have insulin deficiency and an increased chance of diabetes. Mitochondrial DNA point mutations:... CPT II Deficiency Symptoms â Myopathic: Exercise intolerance, fasting intolerance, muscle pain, muscle stiffness, and myoglobin in the urine Symptoms â Infantile: Reye-like syndrome, enlarged liver, hypoglycemia, enlarged heart, and cardiac arrhythmia Cause: Autosomal... KSS Long name: Kearns-Sayre Syndrome KSS is a slowly progressive multi-system mitochondrial disease that often begins with drooping of the eyelids (ptosis). Some registries collect contact information while others collect more detailed medical information. Single-gene inheritance, 2. Damage to the chromosomes; and 4. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. We also encourage you to explore the rest of this page to find resources that can help you find specialists. People with mitochondrial genetic disorders can present at any age with almost any affected body system. Note, however, that this is not the “premature aging” disease. Patients with a primary mitochondrial disease just experience this fate differently, earlier, and in different parts of their bodies. The primary aim of treatment is to alleviate symptoms and slow the progression of the condition. Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body (except red blood cells). Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells and also are the result of either inherited or spontaneous mutations in mtDNA or nDNA which lead to altered functions of the proteins or RNA molecules that normally reside in mitochondria. They can direct you to research, resources, and services. http://www.ncbi.nlm.nih.gov/books/NBK1224/, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3625385/, http://www.umdf.org/site/c.otJVJ7MMIqE/b.5692887/k.6686/Treatments__Therapies.htm, http://www.umdf.org/site/pp.aspx?c=8qKOJ0MvF7LUG&b=7934633. Diagnosis is complex and requires the integration of information obtained by history, laboratory testing, imaging, and muscle biopsy. For example, a variety of vitamins and other supplements have been used to treat people affected by mitochondrial conditions with varying degrees of success. May cause... Complex III Deficiency Long Name: Ubiquinone-cytochrome c oxidoreductase deficiency Symptoms: Four major forms: Fatal infantile encephalomyopathy, congenital lactic acidosis, hypotonia, dystrophic posturing, seizures, and coma. The in-depth resources contain medical and scientific language that may be hard to understand. Large scale deletions means a loss in potentially vital mitochondrial genes, and therefore the effects can be fatal. Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. You can find more tips in our guide, How to Find a Disease Specialist. Pyruvate Dehydrogenase Deficiency Symptoms: Lactic acidosis, ataxia, pyruvic acidosis, spinal and cerebellar degeneration Less Common: Agenesis of the corpus callosum and lesions in the basal ganglia, cerebelum, and brain stem Also: Growth delay, hypotonia, seizures,... SANDO Links: https://www.ncbi.nlm.nih.gov/books/NBK26471/. In some cases, the pattern of symptoms may be suggestive of a specific mitochondrial condition. If the disease-causing, Treatment for mitochondrial genetic disorders varies significantly based on the specific type of condition and the signs and symptoms present in each person. If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Mitochondrial genetic disorders. ADOA - Autosomal Dominant Optic Atrophy ADOA - Autosomal Dominant Optic Atrophy â https://rarediseases.info.nih.gov/diseases/5243/autosomal-dominant-optic-atrophy-plus-syndrome DOA - Dominant Optic Atrophy - DOA -... Alpers Disease Long name: Progressive Infantile Poliodystrophy Symptoms: Seizures, dementia, spasticity, blindness, liver dysfunction, and cerebral degeneration Source: Dr. Rolf Luft; The development of mitochondrial medicine. During each session,... Luft Disease Symptoms: Hypermetabolism, with fever, heat intolerance, profuse perspiration, polyphagia, polydipsia, ragged-red fibers, and resting tachycardia. Persons with a mitochondrial disease may be male or female but they are always related in the maternal line and no male with the disease can transmit it to his children. Get the latest research information from NIH: https://covid19.nih.gov (link is external). Visit the group’s website or contact them to learn about the services they offer. Mitochondrial disease is another example of a monogenic disorder and involving mitochondrial DNA, which is passed from the mother to offspring. Do you have updated information on this disease? UMDF maintains a list of 200+ doctors treating and researching mitochondrial disease. Cause: Autosomal recessive Treatment: See... LCHAD Symptoms: Encephalopathy, liver dysfunction, cardiomyopathy, and myopathy. If you do not want your question posted, please let us know. Mitochondrial disease is an inherited chronic illness that can be present at birth or develop later in life. Although symptoms of a mitochondrial disease … This is because: There’s fewer mitochondria in the brain, as opposed to the heart for example… There are 4 types of genetic diseases. Any of the body's organs and systems can be affected including the brain, heart, lungs, gut, liver and skin. Gain knowledge from our guest speakers on topics important to the mitochondrial disease community. NOTE: Information about... Carnitine-Acyl-Carnitine DeficiencySymptoms: Seizures, apnea, bradycardia, vomiting, lethargy, coma, enlarged liver, limb weakness, myoglobin in the urine, Reye-like symptoms triggered by fasting Cause: Autosomal recessive... Carnitine DeficiencySymptoms: Seizures, apnea, bradycardia, vomiting, lethargy, coma, enlarged liver, limb weakness, myoglobin in the urine, Reye-like symptoms triggered by fasting Cause: Autosomal recessive... Complex I DeficiencyLong Name: NADH dehydrogenase (NADH-CoQ reductase) deficiency Inside the mitochondrion is a group of proteins that carry electrons along four chain reactions (Complexes I-IV), resulting in energy production. We want to hear from you. Leigh Syndrome may result if the percentage of mutation is high enough. Because muscle cells and nerve cells have especially high energy needs, muscular and neurological problems are common features of mitochondrial disease. The rate of progression however varies hugely from patient to patient and is dependent on a number of factors including the underlying genetic defect, the organs affected by disease and exposure to infection/medical or physiological stress. Have a question? Other eye muscles eventually become involved, resulting in paralysis of eye movement. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. For example, a variety of vitamins and other supplements have been used to treat people affected by mitochondrial conditions with varying degrees of success. A mitochondrial disease can shut down some or all the mitochondria, cutting off this essential energy supply. Classification of mitochondrial disorders has evolved gradually and was initially based on clinical then morphologic or biochemical findings (especially in skeletal muscle) and most recently on genetic evidence. http://www.mitoaction.org/forums/list-mito-specialists, North American Mitochondrial Disease Consortium (NAMDC) Contact Registry. Do you know of an organization? Examples of genetic diseases or disorders include Huntington’s disease, PCOS, and Down and Turner syndrome. There are many types of mitochondrial disease, and they can affect different parts of the body: the brain, kidneys, muscles, heart, eyes, ears, and others. Inclusion on this list is not an endorsement by GARD. Mitochondrial disease can affect one tissue alone (e.g., pure myopathy, or cardiomyopathy) or, as is more usual, a combination of tissues. Mitochondrial genetic inheritance disorders. Cause: Autosomal recessive Treatment: See Beta-oxidation Defects Links:... Leigh Disease or SyndromeLong Name: Subacute Necrotizing Encephalomyelopathy Symptoms: Seizures, hypotonia, fatigue, nystagmus, poor reflexes, eating & swallowing difficulties, breathing problems, poor motor function, ataxia Leighâs Disease is a progressive... LHON - Leber Hereditary Optic NeuropathyLinks LHON Website https://rarediseases.info.nih.gov/diseases/6870/leber-hereditary-optic-neuropathyLHON Live Monthly Online Meetings Each month, members of the LHON community gather online for LHON Live. Magnetic resonance spectroscopy (detects abnormalities in the brain's chemical makeup). Here, large scale portions of mitochondrial DNA are deleted, often due to environmental factors in the nucleus such as other genes or due to unknown causes. Mitochondrial diseases can affect one part of the body or can affect many parts. Mitochondrial respiratory chain disease mtDNA loses more than 99% of its original genes and most autonomy in its symbiosis with nDNA. Mitochondrial Disease is a progressive condition which means that it will get worse over time. [Review]; Proceedings of the National... Barth Syndrome / LIC (Lethal Infantile Cardiomyopathy) Symptoms: Skeletal myopathy, cardiomyopathy, short stature, and neutropenia Cause: X-linked recessive Source: Dr. J. Christodoulou; Barth syndrome: clinical observations and genetic linkage studies; American... Beta-oxidation Defects See LCAD, LCHAD, MAD, MCAD, SCAD, SCHAD, VLCAD Treatment: High carbohydrate-low fat diet, administration of medium-chain triglyceride oil, and diet supplementation with carnitine and/or riboflavin. Symptoms: encephalopathy, balance problems, ataxia, epilepsy, cognitive impairment, psychiatric symptoms, eye movement disorders, involuntary movements, peripheral neuropathy. Get the latest public health information from CDC: https://www.coronavirus.gov (link is external) The brain is uniquely vulnerable to oxidative damage, which is a good reason why you are tired and struggle with foggy brain. 1. Lactic acidosis common. Other examples of possible interventions include medications to treat diabetes mellitus , surgery for cataracts , and cochlear implantation for hearing loss . Because mitochondria perform so many different functions in different tissues, there are literally hundreds of different mitochondrial diseases estimated to affect at least one in 6000, and for which there is … Different cell types have different energy needs. SCAD Long Name: Short-Chain Acyl-CoA Dehydrogenase Deficiency Symptoms: Failure to thrive, developmental delay, and hypoglycemia Cause: Autosomal recessive Treatment: See Beta-oxidation Defects Links:... SCHAD Symptoms: Encephalopathy and possibly liver disease or cardiomyopathy Cause: Autosomal recessive Treatment: See Beta-oxidation Defects Links: https://rarediseases.info.nih.gov/diseases/9870/3-alpha-hydroxyacyl-coa-dehydrogenase-deficiency, TK2/myopathic formLinks: https://ghr.nlm.nih.gov/condition/tk2-related-mitochondrial-dna-depletion-syndrome-myopathic-form. Another category of mutation is the deletion. Is this the first time you’ve heard of mitochondrial dysfunction? The Brain and Oxidative Damage Due to Mitochondrial Dysfunction. Links: https://rarediseases.info.nih.gov/diseases/3163/lactic-acidosis-congenital-infantile. Every person with Mitochondrial Disease is affected differently. Mitochondrial disease is a clinically heterogeneous, often multisystem disorder that can present from birth to old age. Because of the oddities of mitochondria, mitochondrial inheritance does not obey the classic rules of genetics. Each individual affected will have a different combination of mitochondria that are working and not working within each cell. 8085 Saltsburg Road, Suite 201 Pittsburgh, PA 15239, © 2020 United Mitochondrial Disease Foundation | All Rights Reserved | Donor Privacy Policy. Degeneration of the... Lactic Acidosis Cause: The accumulation of lactic acid due to its production exceeding its use. Symptoms: Two major forms: Typically normal for the first 6 to 12 months of life and then show developmental regression,... Complex V Deficiency Long Name: ATP synthase deficiency Symptoms: Slow, progressive myopathy Links: https://rarediseases.info.nih.gov/diseases/1459/mitochondrial-complex-v-deficiency. Ongoing research and clinical trials offer the best hope for quicker diagnosis and more effective treatments. Questions sent to GARD may be posted here if the information could be helpful to others. Mitochondrial dysfunction can also be measured indirectly by measuring cellular ATP productions using TempoATP™. We remove all identifying information when posting a question to protect your privacy. They can affect those part (s) mildly or very seriously. How can we make GARD better? Mitochondrial diseases can affect almost any part of the body, including the cells of the brain, nerves, muscles, kidneys, heart, liver, eyes, ears or pancreas. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. It is important to remember that although these are the most common forms of mitochondrial disease, each is individually rare, occurring in fewer than 1 in 1,000 people. Exercise intolerance with mild weakness. We want to hear from you. Avoidance of fasting. This section provides resources to help you learn about medical research and ways to get involved. placeholder for the horizontal scroll slider, Office of Rare Disease Research Facebook Page, Office of Rare Disease Research on Twitter, U.S. Department of Health & Human Services, Caring for Your Patient with a Rare Disease, Preguntas Más Frecuentes Sobre Enfermedades Raras, Como Encontrar un Especialista en su Enfermedad, Consejos Para una Condición no Diagnosticada, Consejos Para Obtener Ayuda Financiera Para Una Enfermedad, Preguntas Más Frecuentes Sobre los Trastornos Cromosómicos.
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