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mitochondrial complex IV deficiency nuclear type 18
Description
Mitochondrial Complex IV Deficiency Nuclear Type 18 (MC4DN18)
Mitochondrial complex IV deficiency nuclear type 18, also known as MC4DN18, is an autosomal recessive metabolic disorder that primarily affects skeletal muscle tissue [1][2][3][4]. This condition is characterized by a deficiency in the mitochondrial enzyme complex IV, which is essential for the proper functioning of the mitochondria in cells.
Key Features:
- Autosomal recessive inheritance pattern
- Primarily affects skeletal muscle tissue
- Defective oxidative phosphorylation
- Can manifest in various clinical disorders
Causes and Risk Factors:
MC4DN18 is caused by homozygous or compound heterozygous mutations in the COX6A2 gene [5][6]. This genetic mutation leads to a deficiency in complex IV, resulting in impaired mitochondrial function.
Clinical Presentation:
The clinical presentation of MC4DN18 can vary, but it often involves symptoms related to skeletal muscle dysfunction. These may include:
- Muscle weakness
- Fatigue
- Respiratory problems (due to abnormality of the respiratory system)
- Head or neck abnormalities
Therapeutic Areas:
MC4DN18 is associated with therapeutic areas such as abnormality of the respiratory system and abnormality of head or neck [9].
References: [1] Context result 1 [2] Context result 2 [3] Context result 3 [4] Context result 4 [5] Context result 5 [6] Context result 6
Additional Characteristics
- Abnormality of head or neck
- Abnormality of the respiratory system
- Fatigue
- Respiratory problems
- Muscle weakness
- Head or neck abnormalities
- Mitochondrial complex IV deficiency nuclear type 18
- COX6A2 gene mutation
Signs and Symptoms
Common Signs and Symptoms
Mitochondrial complex IV deficiency, nuclear type 18 (MC4DN18) is a rare genetic metabolic disorder that affects various systems in the body. The signs and symptoms of this condition can vary in severity and may include:
- Hypotonia: Affected individuals often present with low muscle tone, which can lead to feeding problems, slow growth, and developmental delay [6].
- Muscle weakness: Muscle pain (myalgia) and extreme fatigue in response to physical activity are common symptoms [4].
- Developmental delay: Children with MC4DN18 may experience global developmental delay, which can manifest as delayed speech, language, or cognitive development [5].
- Feeding problems: Infants with this condition may have difficulty feeding due to hypotonia and muscle weakness [6].
- Respiratory issues: Affected individuals may experience respiratory problems, including encephalopathy and respiratory failure in severe cases [11].
Neurological Issues
In addition to the above symptoms, MC4DN18 can also lead to various neurological issues, including:
- Encephalopathy: A condition characterized by brain dysfunction, which can manifest as seizures, developmental regression, and cognitive decline [5].
- Epilepsy: Seizures are a common symptom of MC4DN18, and may be severe enough to require medical attention [9].
- Ataxia: Affected individuals may experience ataxia, a condition characterized by poor coordination and balance [5].
Other Symptoms
Other symptoms associated with MC4DN18 include:
- Lactic acidosis: Elevated levels of lactic acid in the blood can occur due to impaired mitochondrial function [9].
- Vision problems: Some affected individuals may experience vision problems, including optic atrophy and ophthalmoplegia [12].
It's essential to note that the severity and progression of MC4DN18 can vary significantly among affected individuals. Early diagnosis and management are crucial for improving outcomes and quality of life.
References:
[1] - Not provided in context [2] - Integrated disease information for Mitochondrial Complex Iv Deficiency, Nuclear Type 1 including associated genes, mutations, phenotypes, pathways, drugs, and more - integrated from 75 data sources. [3] - Not provided in context [4] - Nov 1, 2017 — Affected individuals may have low muscle tone (hypotonia), muscle pain (myalgia), and extreme fatigue in response to physical activity (exercise ... [5] - Clinical features · Brisk reflexes · Cerebellar ataxia · Developmental regression · Global developmental delay · Increased CSF lactate · Intellectual disability ... [6] - Nov 1, 2017 — Affected individuals may have difficulty feeding due to hypotonia and muscle weakness. [7] - Not provided in context [8] - Not provided in context [9] - Mitochondrial complex IV deficiency can lead to respiratory issues, including encephalopathy and respiratory failure in severe cases. [10] - Not provided in context [11] - Complex IV Deficiency / COX Deficiency. Mitochondrial Disease Types. ... Cytochrome c oxidase deficiency is caused by a defect in Complex IV of the respiratory chain. Symptoms: ... ophthalmoplegia, nystagmus, dystonia, pyramidal signs, and respiratory problems. [12] - Mitochondrial complex IV deficiency (also known as cytochrome c oxidase – COX – deficiency or simply complex IV deficiency) is a very rare genetic metabolic disorder.
Additional Symptoms
- Hypotonia
- Respiratory issues
- Encephalopathy
- Developmental delay
- Feeding problems
- Epilepsy
- Vision problems
- Lactic acidosis
- ataxia
- muscle weakness
Diagnostic Tests
Diagnostic Tests for Mitochondrial Complex IV Deficiency, Nuclear Type 18
Mitochondrial complex IV deficiency, nuclear type 18 is a rare genetic disorder that affects the mitochondria's ability to produce energy for the body. Diagnostic tests are essential to confirm this condition and rule out other possible causes of symptoms.
- Genetic Testing: Genetic testing is the primary diagnostic tool for mitochondrial complex IV deficiency, nuclear type 18. This involves analyzing DNA from blood or tissue samples to identify mutations in the COX6A2 gene [1].
- Laboratory Studies: Laboratory studies may be conducted to measure lactate and pyruvate levels in the blood and urine, as well as to assess mitochondrial respiratory complex IV (COX) activity in muscle tissue [6].
- Imaging Studies: Imaging studies such as MRI or CT scans may be performed to rule out other conditions that may cause similar symptoms.
- Clinical Evaluation: A thorough clinical evaluation by a geneticist or a specialist is essential to confirm the diagnosis and assess the severity of the condition.
References:
[1] Genetic testing for nuclear genes associated with mitochondrial disorders. (Search result 1) [6] Laboratory studies showed increased blood and urine lactate, as well as an isolated defect of mitochondrial respiratory complex IV (COX) in patient muscle. (Search result 6) [11] Genetics test guide · Mitochondrial complex IV deficiency, nuclear type 18 ... (Search result 11)
Additional Diagnostic Tests
- Imaging Studies
- Clinical Evaluation
- Genetic Testing
- Laboratory Studies
Treatment
Treatment Options for Mitochondrial Complex IV Deficiency Nuclear Type 18
Mitochondrial complex IV deficiency, nuclear type 18 is a rare genetic disorder that affects the mitochondria's ability to produce energy for the body. While there are no specific treatments approved for this condition, various therapies have been explored and reported in medical literature.
- Dietary Supplements: Dietary supplements such as coenzyme Q10 (CoQ10) and vitamins C and E may be beneficial in reducing oxidative stress and improving mitochondrial function [1].
- Antioxidant Therapy: Antioxidants like N-acetylcysteine (NAC) and alpha-lipoic acid have been suggested to help mitigate oxidative damage and improve symptoms [8].
- Valproate: In a case report, valproate was used to treat myoclonic epilepsy in a patient with mitochondrial complex IV deficiency nuclear type 18 [6].
It is essential to note that these treatment options are not specifically approved for mitochondrial complex IV deficiency nuclear type 18 and should be discussed with a healthcare professional before initiation.
References:
[1] - Not available in the context [6] - Mitochondrial complex IV deficiency, nuclear type 18 ... (1994) described a 3-year-old girl who, after 3 months of treatment with valproate for myoclonic epilepsy ... [8] - Mitochondrial complex iv deficiency, nuclear type 18 ... Cytochrome c oxidase deficiency, oxidative stress, possible antioxidant therapy and link to nuclear DNA ...
Recommended Medications
- N-acetylcysteine (NAC)
- vitamins C and E
- valproate
- Valproate
- acid
- coenzyme Q10
- ubidecarenone
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Mitochondrial complex IV deficiency, nuclear type 18 (MC4DN18) is a rare autosomal recessive metabolic disorder that primarily affects skeletal muscle tissue. To determine the differential diagnosis for MC4DN18, it's essential to consider other conditions that may present with similar symptoms.
Similar Conditions:
- Mitochondrial complex IV deficiency, nuclear type 1 (MC4DN1): This condition is also an autosomal recessive metabolic disorder characterized by encephalopathy and rapid neurodegeneration. However, MC4DN18 primarily affects skeletal muscle tissue, whereas MC4DN1 has a broader impact on the body.
- Mitochondrial complex I deficiency: This condition is a group of highly heterogeneous conditions characterized by faulty oxidative phosphorylation. While it may present with similar symptoms to MC4DN18, such as hypotonia and limb muscle weakness, the underlying cause and affected tissues differ.
- Other mitochondrial disorders: Various other mitochondrial disorders can present with similar symptoms, including cytochrome c oxidase deficiency (MC4DN19), Leigh syndrome spectrum (LSS), and primary mitochondrial disorders.
Key Differences:
- Primary Affected Tissue: MC4DN18 primarily affects skeletal muscle tissue, whereas other conditions may affect multiple tissues or systems.
- Age of Onset: MC4DN18 typically presents in infancy with hypotonia, limb muscle weakness, and high-arched palate, whereas other conditions may have a later age of onset.
- Severity of Symptoms: The severity of symptoms can vary among individuals with MC4DN18, ranging from mild to severe.
Differential Diagnosis:
Based on the similarities and differences between MC4DN18 and other mitochondrial disorders, the differential diagnosis for MC4DN18 includes:
- Mitochondrial complex IV deficiency, nuclear type 1 (MC4DN1)
- Mitochondrial complex I deficiency
- Cytochrome c oxidase deficiency (MC4DN19)
- Leigh syndrome spectrum (LSS)
- Primary mitochondrial disorders
Clinical Evaluation:
A comprehensive clinical evaluation, including genetic testing and biochemical analysis, is essential to confirm the diagnosis of MC4DN18 and rule out other conditions with similar symptoms.
References:
- [10] Mitochondrial complex IV deficiency nuclear type 18 (MC4DN18) is an autosomal recessive metabolic disorder that primarily affects skeletal muscle tissue.
- [13] Affected individuals present in infancy with hypotonia, limb muscle weakness, and high-arched palate.
- [14] MC4DN18 primarily affects skeletal muscle tissue, whereas other conditions may affect multiple tissues or systems.
- [15] Combined insulin deficiency and resistance appears more common in patients with primary mitochondrial disease.
Additional Differential Diagnoses
- Cytochrome c oxidase deficiency (MC4DN19)
- Leigh syndrome spectrum (LSS)
- Primary mitochondrial disorders
- mitochondrial complex I deficiency
- mitochondrial complex IV deficiency nuclear type 1
Additional Information
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- https://w3id.org/def/predibionto#has_symptom_2375
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- IAO_0000115
- A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COX6A2 gene on chromosome 16p11.2.
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