Fumaric aciduria

Fumaric Aciduria is a rare metabolic disorder characterized by the body's inability to process certain proteins and fats (lipids) properly. This condition is classified as an organic aciduria, a group of disorders that disrupt the normal balance of chemical reactions in the body.

Symptoms

The symptoms of Fumaric Aciduria can vary greatly from person to person. However, common symptoms include developmental delay, seizures, and failure to thrive. Some individuals may also experience acidosis, a condition where there is too much acid in the body fluids.

Causes

Fumaric Aciduria is caused by mutations in the FH (Fumarate Hydratase) gene. This gene provides instructions for making an enzyme that is involved in an important series of reactions known as the Krebs cycle, which is essential for energy production and the breakdown of proteins and fats.

Diagnosis

Diagnosis of Fumaric Aciduria is typically made through a combination of clinical examination, biochemical testing, and genetic testing. The presence of excess fumaric acid in the urine is a key indicator of the condition.

Treatment

There is currently no cure for Fumaric Aciduria. Treatment is symptomatic and supportive, and may include dietary modifications, medications to manage symptoms, and regular monitoring by a team of healthcare professionals.

Prognosis

The prognosis for individuals with Fumaric Aciduria varies depending on the severity of symptoms and the individual's overall health. With appropriate management, some individuals can lead relatively normal lives.

See Also

• Organic aciduria
• Metabolic disorder
• Krebs cycle
• FH (Fumarate Hydratase)