Fumaric aciduria is a rare metabolic disorder caused by a deficiency of the enzyme fumarase. This enzyme is responsible for breaking down fumarate, a byproduct of the Krebs cycle, which is a series of chemical reactions that occur in the body to produce energy. People with fumaric aciduria are unable to break down fumarate, leading to a buildup of this compound in the body. Symptoms of fumaric aciduria can include seizures, developmental delays, and intellectual disability. Treatment typically involves a combination of dietary changes, medications, and supplements.

The symptoms of Fumaric aciduria can vary from person to person, but may include:

-Developmental delay
-Seizures
-Intellectual disability
-Growth retardation
-Feeding difficulties
-Vomiting
-Diarrhea
-Lethargy
-Weakness
-Muscle spasms
-Abnormal movements
-Behavioral problems
-Hearing loss
-Vision problems
-Kidney problems
-Liver problems
-Skin rashes

Fumaric aciduria is caused by a genetic mutation in the gene that codes for the enzyme fumarylacetoacetate hydrolase (FAH). This enzyme is responsible for breaking down fumarate, a byproduct of the breakdown of the amino acid phenylalanine. Without this enzyme, fumarate builds up in the body and can cause a variety of symptoms.

The primary treatment for fumaric aciduria is a low-protein diet, which helps to reduce the amount of fumaric acid in the body. Additionally, dietary supplements such as carnitine, riboflavin, and thiamine may be prescribed to help reduce the symptoms of the condition. In some cases, medications such as anticonvulsants may be prescribed to help control seizures. In severe cases, a liver transplant may be necessary.

1. Genetic mutation: Fumaric aciduria is caused by a genetic mutation in the gene that codes for the enzyme fumarylacetoacetate hydrolase (FAH).

2. Family history: Fumaric aciduria is an inherited disorder, so having a family history of the condition increases the risk of developing it.

3. Ethnicity: Fumaric aciduria is more common in people of Middle Eastern and North African descent.

4. Age: Fumaric aciduria is more common in infants and young children.

Fumaric aciduria is a rare metabolic disorder that is caused by a deficiency of the enzyme fumarylacetoacetate hydrolase (FAH). Currently, there is no cure for fumaric aciduria. However, there are medications available to help manage the symptoms of the disorder. These medications include dietary supplements, such as carnitine, and medications to reduce the levels of fumaric acid in the body, such as sodium benzoate. Additionally, a low-protein diet may be recommended to help reduce the amount of fumaric acid in the body.