3-Methylglutaconic aciduria type 4 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 experience a wide range of symptoms, including developmental delay, seizures, muscle weakness, and vision and hearing problems.

The symptoms of 3-methylglutaconic aciduria type 4 vary from person to person, but may include:

-Developmental delay
-Intellectual disability
-Seizures
-Movement disorders
-Feeding difficulties
-Growth retardation
-Hearing loss
-Vision problems
-Behavioral problems
-Muscle weakness
-Abnormal gait
-Abnormal muscle tone
-Abnormal reflexes
-Abnormal breathing patterns
-Cardiac arrhythmias
-Liver and kidney dysfunction

3-methylglutaconic aciduria type 4 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 fatty acids, which are molecules that provide energy to cells. Mutations in the ACAD9 gene reduce or eliminate the activity of the ACAD9 enzyme, which disrupts the breakdown of fatty acids and leads to the buildup of 3-methylglutaconic acid in the body.

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

At this time, there is no known cure for 3-methylglutaconic aciduria type 4. 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, physical therapy and occupational therapy can help improve muscle strength and coordination.