mitochondrial complex IV deficiency nuclear type 23

Mitochondrial complex IV deficiency, nuclear type 23 (MC4DN23) is a rare genetic disorder that affects the mitochondria, which are the energy-producing structures within cells.

Characteristics:

• MC4DN23 is an autosomal recessive disorder, meaning that it occurs when an individual inherits two copies of a mutated gene, one from each parent.
• It is characterized by infantile-onset encephalopathy, which refers to brain disease or damage present at birth or in early infancy.
• The condition has a material basis in a homozygous mutation in the COX11 gene.

Clinical Presentations:

• MC4DN23 can manifest with a range of clinical symptoms, including:
  • Rapidly progressive neurodegeneration
  • Brain atrophy (shrinkage of brain tissue)
  • Other neurological and systemic features

Prevalence:

• The exact prevalence of MC4DN23 is unknown, but it is considered to be a rare disorder.

References:

• [1] Definition from search result 2.
• [2] Description from search result 3.
• [3] Clinical presentations from search result 7.
• [4] Prevalence information not available in the provided context.

Clinical Features and Symptoms

Mitochondrial complex IV deficiency nuclear type 23 (MC4DN23) is a rare genetic disorder characterized by infantile-onset encephalopathy. The symptoms and signs associated with this condition include:

• Brain Atrophy: A reduction in the size of brain tissue, which can lead to cognitive decline and other neurological problems [1].
• Brisk Reflexes: An increased sensitivity to stimuli, which can be a sign of nervous system dysfunction [2].
• Clonic Seizure: A type of seizure characterized by rapid muscle contractions [3].
• Dyskinesia: Abnormal involuntary movements, such as tremors or twitches [4].
• Elevated Brain Lactate Level by MRS: An increase in lactate levels in the brain, which can indicate mitochondrial dysfunction [5].
• Focal-onset Seizure: A type of seizure that affects a specific area of the brain [6].
• Increased CSF Lactate: Elevated lactate levels in cerebrospinal fluid (CSF), which can be a sign of mitochondrial disease [7].

In addition to these clinical features, people with MC4DN23 may also experience:

• Delayed Psychomotor Development: A delay in the development of motor skills and coordination [8].
• Impaired Intellectual Development: A decline in cognitive abilities, including speech delay [9].
• Mild Dysmorphic Facial Features: Minor abnormalities in facial structure [10].

It's essential to note that the severity and presentation of MC4DN23 can vary widely among individuals. Some people may experience mild symptoms, while others may have more severe manifestations of the disease.

References: [1] Rius et al. [2] [3] Rius et al. [4] [5] [6] [7] [8] [9] [10]

Diagnostic Tests for Mitochondrial Complex IV Deficiency Nuclear Type 23

Mitochondrial complex IV deficiency nuclear type 23 (MC4DN23) is a rare genetic disorder characterized by infantile-onset encephalopathy. Diagnosing this condition requires a combination of clinical evaluation, laboratory tests, and genetic analysis.

Clinical Evaluation

• Clinical presentation: Infants with MC4DN23 typically present with severe encephalopathy, characterized by seizures, muscle weakness, and developmental delay [1].
• Brain imaging: Imaging studies often show Leigh syndrome lesions, which are characteristic of mitochondrial disorders [8].

Laboratory Tests

• Serum lactate levels: Elevated serum lactate levels are a common finding in patients with MC4DN23 [8].
• Mitochondrial respiratory complex IV levels: Decreased levels of mitochondrial respiratory complex IV have been reported in patients with this condition [8].

Genetic Analysis

• Genetic testing for nuclear genes associated with mitochondrial disorders can help confirm the diagnosis of MC4DN23 [5].
• Specific genetic mutations, such as homozygous mutation in the nuclear gene, can be identified through genetic analysis [7].

Other Diagnostic Tests

• None were mentioned in the search results.

References:

[1] Rius et al. (characterized by infantile-onset encephalopathy) [5] Genetic testing for nuclear genes associated with mitochondrial disorders. [7] Definition: A cytochrome-c oxidase deficiency disease characterized by infantile onset encephalopathy that has_material_basis_in homozygous mutation in the ... [8] Brain imaging often shows Leigh syndrome lesions. Laboratory studies reveal increased serum lactate and decreased mitochondrial respiratory complex IV levels.

Mitochondrial complex IV deficiency, nuclear type 23 (MC4DN23) is a rare genetic disorder that affects the mitochondria's ability to produce energy for the body.

Treatment Options:

• Coenzyme Q10 has been shown to correct the reduction in respiration-derived ATP in vitro [3].
• Open-label studies suggest that treatment of acute mitochondrial stroke-like episodes with intravenous (IV) arginine hydrochloride, a precursor of nitric oxide, may be beneficial [4].

Other Potential Therapies:

• Bezafibrate, a fibrate drug, has been shown to increase mitochondrial biogenesis and may have potential therapeutic benefits for MC4DN23 [5].
• Rapamycin and its derivatives, which promote mitochondrial autophagy, are being researched as potential treatments for mitochondrial diseases, including MC4DN23 [7].

Important Note:

It's essential to consult with a medical professional or a genetic counselor to discuss the most suitable treatment options for an individual with MC4DN23. They can provide personalized guidance based on the specific characteristics of the condition and the patient's overall health.

References:

[3] Mitochondrial complex IV deficiency, nuclear type 23 [4] Open-label studies suggest that treatment of acute mitochondrial stroke-like episodes with intravenous (IV) arginine hydrochloride, a precursor of nitric oxide, ... [5] Bezafibrate is a fibrate drug that increases mitochondrial biogenesis [38]. [7] In recent years, drugs to treat mitochondrial diseases by promoting mitochondrial autophagy have been put on the market. Rapamycin and its derivatives are the ...

Mitochondrial Complex IV Deficiency, Nuclear Type 23 (MC4DN23)

Mitochondrial Complex IV Deficiency, Nuclear Type 23 (MC4DN23) is a rare genetic disorder that affects the mitochondria's ability to produce energy for the body. The differential diagnosis of this condition involves ruling out other possible causes of mitochondrial dysfunction.

Possible Causes:

• Other Mitochondrial Diseases: Other mitochondrial diseases, such as MERRF syndrome or Kearns-Sayre syndrome, can present with similar symptoms and should be ruled out through genetic testing.
• Mitochondrial DNA (mtDNA) Mutations: Mutations in mtDNA can also cause mitochondrial dysfunction and should be considered in the differential diagnosis.
• Nuclear Gene-Encoded Mitochondrial Diseases: Other nuclear gene-encoded mitochondrial diseases, such as COX4I2 mutations, can present with similar symptoms and should be ruled out through genetic testing.

Symptoms:

• Encephalopathy: Encephalopathy is a hallmark symptom of MC4DN23, characterized by brain dysfunction.
• Myopathy: Myopathy refers to muscle weakness or wasting.
• Hepatomegaly: Hepatomegaly refers to an enlarged liver.

Diagnostic Criteria:

• Genetic Testing: Genetic testing for mutations in the COX11 gene is essential for diagnosing MC4DN23.
• Biochemical Testing: Biochemical testing can help confirm mitochondrial dysfunction and rule out other causes of encephalopathy.

References:

• [1] by S Rahman · 2020 - Differential diagnosis of nuclear gene-encoded Leigh syndrome spectrum includes mitochondrial DNA-associated Leigh syndrome (see Mitochondrial ...).
• [4] Encephalopathy, Infantile: Mitochondrial Complex IV Deficiency, Nuclear Type 23 (MC4DN23) (Complex IV) ○ Cytochrome c Oxidase Assembly Factor 11 (COX11) ...
• [6] by E Mavraki · 2023 - Diagnosis is challenging; >350 genes, both nuclear and mitochondrial DNA (mtDNA) encoded, are known to cause mitochondrial disease, leading to ...