3-Methylglutaconic aciduria type 1 (3-MGA type 1) is an inherited metabolic disorder caused by a deficiency of the enzyme 3-methylglutaconyl-CoA hydratase. This enzyme is involved in the breakdown of certain fatty acids and amino acids. People with 3-MGA type 1 have an accumulation of 3-methylglutaconic acid in their urine, which can lead to a variety of symptoms, including developmental delay, seizures, and movement disorders.

The symptoms of 3-methylglutaconic aciduria type 1 can vary from person to person, but may include:

-Developmental delay

-Seizures

-Movement disorders
-Feeding difficulties
-Growth retardation
-Hearing loss
-Vision problems
-Behavioral problems
-Muscle weakness
-Liver and kidney problems
-Heart defects
-Abnormal facial features

3-methylglutaconic aciduria type 1 is caused by mutations in the MEGDEL gene, which is responsible for producing an enzyme called 3-methylglutaconyl-CoA hydratase. This enzyme is necessary for the breakdown of certain fatty acids and amino acids. Without it, these substances build up in the body and cause the symptoms of 3-methylglutaconic aciduria type 1.

1. Dietary management: A low-protein diet is recommended to reduce the amount of 3-methylglutaconic acid in the body.

2. Vitamin B6 supplementation: Vitamin B6 supplementation may help reduce the amount of 3-methylglutaconic acid in the body.

3. Enzyme replacement therapy: Enzyme replacement therapy may be used to replace the missing enzyme in the body.

4. Antioxidant therapy: Antioxidant therapy may help reduce the oxidative stress caused by 3-methylglutaconic aciduria.

5. Gene therapy: Gene therapy may be used to replace the defective gene that causes 3-methylglutaconic aciduria.

1. Autosomal recessive inheritance: 3-methylglutaconic aciduria type 1 is inherited in an autosomal recessive pattern, which means that both copies of the gene in each cell have mutations.

2. Mutations in the MEGDEL gene: 3-methylglutaconic aciduria type 1 is caused by mutations in the MEGDEL gene. This gene provides instructions for making an enzyme called 3-methylglutaconyl-CoA hydratase.

3. Ethnicity: 3-methylglutaconic aciduria type 1 is more common in people of Ashkenazi Jewish descent.

There is no cure for 3-methylglutaconic aciduria type 1, but there are medications that can help manage the symptoms. These medications include carnitine, riboflavin, and biotin. Additionally, dietary modifications may be recommended to help manage the symptoms.