Definition:
Fumaric aciduria is a rare genetic disorder characterized by the inability of the body to break down fumaric acid, resulting in its accumulation in various tissues and organs.
Causes:
Fumaric aciduria is caused by a deficiency of the enzyme fumarase, which is responsible for breaking down fumaric acid in the body.
Symptoms:
Common symptoms of fumaric aciduria include:
- Developmental delay
- Failure to thrive
- Seizures
- Encephalopathy
- Erratic behavior
- Impaired motor skills
- Respiratory problems
- Neurological abnormalities
Diagnosis:
Fumaric aciduria is diagnosed through various tests, including:
- Urine organic acid analysis
- Blood tests to measure fumaric acid levels
- Genetic testing to identify mutations in the fumarase gene
Treatment:
Treatment options for fumaric aciduria are limited and mostly focus on managing symptoms. These can include:
- Dietary modifications
- Supplementation of specific nutrients and vitamins
- Medications to control seizures
- Physical and occupational therapy
Prognosis:
The prognosis for individuals with fumaric aciduria varies depending on the severity of the condition and the effectiveness of management strategies. In severe cases, the disorder can be life-threatening, while milder cases may have a better long-term outlook with appropriate treatment and support.