3-Methylglutaconic aciduria type 7 (3-MGA type 7) is a rare inherited metabolic disorder caused by a deficiency of the enzyme 3-methylglutaconyl-CoA hydratase (MGCA7). This enzyme is involved in the breakdown of certain fatty acids and amino acids. People with 3-MGA type 7 have an accumulation of 3-methylglutaconic acid in their body, which can lead to a variety of symptoms including developmental delay, seizures, and movement disorders.

The symptoms of 3-methylglutaconic aciduria type 7 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
-Gastrointestinal issues
-Kidney problems
-Cardiac abnormalities
-Muscle weakness
-Skeletal abnormalities

3-methylglutaconic aciduria type 7 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: 3-methylglutaconic aciduria type 7 is inherited in an autosomal recessive pattern, which means that both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

2. Mutations in the MEGDELTA gene: 3-methylglutaconic aciduria type 7 is caused by mutations in the MEGDELTA gene. This gene provides instructions for making a protein that is involved in the breakdown of certain fats and amino acids. Mutations in this gene lead to an accumulation of certain substances in the body, which can cause the signs and symptoms of 3-methylglutaconic aciduria type 7.

At this time, there is no known cure for 3-methylglutaconic aciduria type 7. However, there are medications that can help manage the symptoms of the condition. These medications include carnitine, riboflavin, and thiamine. Additionally, dietary modifications may be recommended to help manage the symptoms.