Symptoms of MARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 25
Combined Oxidative Phosphorylation Deficiency Type 25, associated with mutations in the MARS2 gene, presents a complex spectrum of symptoms that can significantly impact an individual’s health and development. This genetic condition affects mitochondrial function, which is crucial for energy production in cells. Understanding the symptoms is essential for early diagnosis and management.
Key Symptoms and Clinical Manifestations
The symptoms of Combined Oxidative Phosphorylation Deficiency Type 25 can vary widely among affected individuals but typically include the following:
- Neurological Impairment: This can range from developmental delays, seizures, ataxia (lack of muscle coordination), and hypotonia (reduced muscle tone) to more severe neurological deficits.
- Metabolic Complications: Individuals may experience lactic acidosis, a condition characterized by an excess of lactic acid in the body, which can lead to nausea, fatigue, and muscle weakness.
- Hearing Loss: Sensorineural hearing loss is a common symptom, affecting the inner ear or the nerve pathways from the inner ear to the brain.
- Growth Retardation: Affected individuals may experience growth retardation, leading to shorter stature than expected for their age and gender.
- Visual Impairments: Optic atrophy, leading to vision loss, can also be a symptom of this condition.
Importance of Genetic Testing
Genetic testing for mutations in the MARS2 gene is crucial for the diagnosis of Combined Oxidative Phosphorylation Deficiency Type 25. Early and accurate diagnosis through genetic testing can lead to better management of symptoms and improved outcomes for affected individuals. It also provides valuable information for family planning and understanding the risk of recurrence in future pregnancies.
Genetic Test Cost
The cost of the genetic test for diagnosing Combined Oxidative Phosphorylation Deficiency Type 25 is 4400 AED. This test is a critical step in confirming the diagnosis and facilitating the appropriate management and treatment strategies for individuals and their families.
Further Information and Booking
For more information about the MARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 25 Genetic Test and to book a test, please visit DNA Labs UAE. Our dedicated team is committed to providing accurate diagnostics and support for individuals and families affected by this condition.
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