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mitochondrial complex IV deficiency nuclear type 20
Description
Mitochondrial complex IV deficiency nuclear type 20 (MC4DN20) is a rare autosomal recessive metabolic disorder that affects the mitochondria, which are the energy-producing structures within cells.
Characteristics:
- MC4DN20 typically manifests in infancy, with symptoms appearing at birth or shortly thereafter.
- Affected individuals often exhibit hypotonia (low muscle tone), failure to thrive, and global developmental delay.
- Additional features may include elevated liver enzymes, increased serum lactate levels, and other systemic abnormalities.
Key Points:
- MC4DN20 is a multisystem metabolic disorder that affects various bodily systems.
- The condition is characterized by a deficiency in the nuclear-encoded gene responsible for mitochondrial complex IV function.
- Early diagnosis and management are crucial to mitigate the severity of symptoms and improve outcomes.
References:
- [1] Description. Mitochondrial complex IV deficiency nuclear type 20 (MC4DN20) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms in infancy. Affected individuals show hypotonia, failure to thrive, and global developmental delay.
- [9] mitochondrial complex IV deficiency nuclear type 20. Term ID: DOID:0070505; Synonyms. MC4DN20. Definition: A COX deficiency, benign infantile mitochondrial ...
Additional Characteristics
- Mitochondrial complex IV deficiency nuclear type 20 (MC4DN20) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms in infancy.
- Affected individuals show hypotonia, failure to thrive, and global developmental delay.
Signs and Symptoms
Mitochondrial Complex IV Deficiency Nuclear Type 20: Signs and Symptoms
Mitochondrial complex IV deficiency nuclear type 20 (MC4DN20) is a rare genetic disorder that affects the mitochondria, the energy-producing structures within cells. The signs and symptoms of MC4DN20 can vary in severity and may include:
- Muscle weakness and poor muscle tone: Individuals with MC4DN20 may experience muscle weakness (myopathy) and poor muscle tone (hypotonia), which can lead to difficulties with physical activity and mobility [5].
- Fatigue and exercise intolerance: People with MC4DN20 may exhibit extreme fatigue in response to physical activity, making it challenging to engage in daily activities or exercise [3].
- Global developmental delay: Affected individuals may experience delayed psychomotor development, impaired intellectual development, and speech delay [6].
- Hepatic failure and cardiomyopathy: In more severe cases, MC4DN20 can lead to liver failure (hepatic failure) and heart muscle disease (cardiomyopathy) [7].
- Reye-like episodes: Some individuals with MC4DN20 may experience Reye-like episodes, which are characterized by a combination of symptoms such as vomiting, lethargy, and seizures [7].
It's essential to note that the severity and presentation of MC4DN20 can vary significantly among affected individuals. While some people may exhibit mild symptoms, others may experience more severe manifestations of the disorder.
References: [3] - Context result 3 [5] - Context result 5 [6] - Context result 6 [7] - Context result 7
Additional Symptoms
- Global developmental delay
- Muscle weakness and poor muscle tone
- Hepatic failure and cardiomyopathy
- Reye-like episodes
- fatigue
Diagnostic Tests
Mitochondrial complex IV deficiency, nuclear type 20 (MC4DN20) can be diagnosed through various tests.
- Laboratory testing: This is a crucial step in diagnosing MC4DN20. According to search result [3], laboratory testing at 5 months of age can help identify the condition.
- Genetic testing: Genetic testing for nuclear genes associated with mitochondrial disorders, such as the one offered by PreventionGenetics (search result [2]), can also be used to diagnose MC4DN20.
- Clinical genetic test: A clinical genetic test, like the one mentioned in search result [2], can be used to identify conditions including Mitochondrial complex IV deficiency, nuclear type 1; and other related disorders.
It's worth noting that diagnosis of mitochondrial diseases, including MC4DN20, can be challenging due to their complexity. According to a study by A Rötig et al. (search result [9]), the diagnosis remains always difficult, especially in cases where complex IV deficiency is involved.
In terms of specific diagnostic codes, search result [10] mentions ICD-9 code 20.0 for myringotomy and other related procedures, but this may not be directly relevant to diagnosing MC4DN20.
References: [2], [3], [8]
Additional Diagnostic Tests
- Laboratory testing
- Genetic testing
- Clinical genetic test
Treatment
Mitochondrial complex IV deficiency, nuclear type 20 (MC4DN20) is a rare genetic disorder that affects the mitochondria's ability to produce energy for the body. While there are no specific treatments available for MC4DN20, research suggests that certain medications may help alleviate symptoms.
According to search results [6], MC4DN20 can affect various parts of the body, including skeletal muscles, the heart, brain, or liver. Treatment options are often focused on managing symptoms and improving quality of life.
One study [7] describes a 3-year-old girl who was treated with valproate for myoclonic epilepsy, which is a type of seizure disorder that can be associated with mitochondrial disorders. However, it's essential to note that this treatment was not specifically for MC4DN20 and may not be effective for everyone.
Another study [8] mentions an autosomal recessive mitochondrial disorder with onset in early infancy, characterized by pulmonary arterial hypertension, poor feeding, and other symptoms. While no specific treatments are mentioned, the study highlights the importance of early diagnosis and management.
A review article [9] on mitochondrial disease provides recommendations for optimal care, including dietary supplements and off-label use of medications approved for other indications. However, it does not specifically mention treatment options for MC4DN20.
It's worth noting that bezafibrate, a fibrate drug, has been shown to increase mitochondrial biogenesis [4]. While this may have potential benefits for individuals with mitochondrial disorders, its effectiveness in treating MC4DN20 is unknown.
In summary, while there are no specific treatments available for mitochondrial complex IV deficiency, nuclear type 20 (MC4DN20), research suggests that certain medications and dietary supplements may help alleviate symptoms. However, more studies are needed to determine the most effective treatment options for this rare disorder.
References: [6] - Cytochrome c oxidase deficiency is a genetic condition that can affect skeletal muscles, the heart, the brain, or the liver. [7] - Mitochondrial complex IV deficiency, nuclear type 20 ... (1994) described a 3-year-old girl who, after 3 months of treatment with valproate for myoclonic epilepsy ... [8] - An autosomal recessive mitochondrial disorder with onset in early infancy. MC4DN20 is characterized by pulmonary arterial hypertension, poor feeding, ... [9] - The purpose of this statement is to review the literature regarding mitochondrial disease and to provide recommendations for optimal ...
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Differential Diagnosis
Mitochondrial Complex IV Deficiency, Nuclear Type 20 (MC4DN20)
Mitochondrial Complex IV Deficiency, Nuclear Type 20 (MC4DN20) is a rare genetic disorder caused by mutations in the COX5A gene. This condition affects the functioning of the mitochondria, specifically the complex IV enzyme, leading to various clinical presentations.
Clinical Presentations:
- Leigh Syndrome: A severe neurodegenerative disorder characterized by progressive brain damage and dysfunction.
- Myopathy: Muscle weakness or wasting due to impaired mitochondrial function.
- Hepatomegaly: Enlargement of the liver due to accumulation of abnormal mitochondria.
- Cardiomyopathy: Abnormal heart muscle function leading to cardiac problems.
Differential Diagnosis:
The differential diagnosis for MC4DN20 includes other conditions that present with similar clinical features, such as:
- Mitochondrial DNA-associated Leigh Syndrome
- Complex II deficiency due to SDHA mutations
- Leukoencephalopathy: A rare condition characterized by abnormal white matter in the brain.
Causes and Risk Factors:
MC4DN20 is caused by autosomal recessive mutations in the COX5A gene. This means that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition.
References:
- [7] Mitochondrial Complex IV Deficiency, Nuclear Type 20 (MC4DN20)
- [8] Causes of mitochondrial leukoencephalopathy include deficiencies of complex I and II assembly, defects of iron–sulphur cluster and lipoic acid...
- [9] Complex II deficiency due to SDHA mutations can cause Leigh syndrome, epilepsy, optic atrophy, ataxia, myopathy with exercise intolerance, cardiomyopathy, and...
Additional Differential Diagnoses
- Mitochondrial DNA-associated Leigh Syndrome
- Complex II deficiency due to SDHA mutations
- obsolete leukoencephalopathy
- mitochondrial complex IV deficiency nuclear type 7
- mitochondrial complex IV deficiency nuclear type 19
- mitochondrial complex IV deficiency nuclear type 2
Additional Information
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#id
- DOID:0070505
- core#notation
- DOID:0070505
- oboInOwl#hasDbXref
- UMLS_CUI:C5436726
- core#exactMatch
- UMLS_CUI:C5436726
- IAO_0000115
- A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX5A gene on chromosome 15q24.2.
- oboInOwl#hasExactSynonym
- MC4DN20
- rdf-schema#label
- mitochondrial complex IV deficiency nuclear type 20
- rdf-schema#subClassOf
- t349897
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000148
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_2377
- owl#annotatedSource
- t349775
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