3-Methylglutaconic aciduria type 3 is a rare 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 this disorder 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 3 can vary from person to person, but may include:

-Developmental delay
-Intellectual disability
-Seizures
-Movement disorders
-Growth retardation
-Feeding difficulties
-Hearing loss
-Vision problems
-Behavioral problems
-Abnormalities of the heart, kidneys, and other organs

3-methylglutaconic aciduria type 3 is caused by mutations in the ACAD9 gene. This gene provides instructions for making an enzyme called acyl-CoA dehydrogenase 9 (ACAD9). This enzyme is involved in the breakdown of certain fats (lipids) in the body. Mutations in the ACAD9 gene reduce or eliminate the activity of the ACAD9 enzyme, leading to a buildup of lipids in the body and the signs and symptoms of 3-methylglutaconic aciduria type 3.

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 levels 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 responsible for 3-methylglutaconic aciduria.

1. Autosomal recessive inheritance
2. Mutations in the SLC25A20 gene
3. Consanguinity
4. Ethnicity (more common in individuals of Ashkenazi Jewish descent)
5. Exposure to certain environmental toxins
6. Maternal diabetes

There is no known cure for 3-methylglutaconic aciduria type 3. However, there are medications that can help manage the symptoms of the condition. These include medications to reduce muscle spasms, medications to reduce seizures, and medications to reduce inflammation. Additionally, dietary modifications may be recommended to help manage the condition.