3-hydroxy-3-methylglutaric aciduria (3-HMG) is an inherited metabolic disorder caused by a deficiency of the enzyme 3-hydroxy-3-methylglutaryl-CoA lyase (HMGCL). This enzyme is responsible for breaking down certain amino acids and fatty acids in the body. Without it, these substances build up in the body and can cause a variety of symptoms, including seizures, developmental delays, and muscle weakness.

The symptoms of 3-hydroxy-3-methylglutaric aciduria can vary from person to person, but may include:

-Developmental delay
-Seizures
-Feeding difficulties
-Growth retardation
-Muscle weakness
-Lethargy
-Vomiting
-Poor coordination
-Liver dysfunction
-Kidney dysfunction
-Hypoglycemia
-Hyperammonemia
-Hypocalcemia
-Hyperuricemia
-Hyperammonemia
-Hyperlactatemia
-Hyperammonemia
-Hyperalaninemia
-Hyperlysinemia
-Hyperornithinemia
-Hyperprolinemia
-Hypervalinemia
-Hypermethioninemia
-Hyperphenylalaninemia
-Hyperty

1. Deficiency of the enzyme 3-hydroxy-3-methylglutaryl-CoA lyase (HMGCL)
2. Deficiency of the enzyme 3-hydroxy-3-methylglutaryl-CoA synthase (HMGCS)
3. Mutations in the HMGCL or HMGCS genes
4. Inheritance of the disorder in an autosomal recessive pattern
5. Rarely, a deficiency of the enzyme 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR)

1. Dietary management: A low-protein diet is recommended to reduce the production of 3-hydroxy-3-methylglutaric acid.

2. Supplementation: Supplementation with carnitine, riboflavin, and thiamine may help reduce the levels of 3-hydroxy-3-methylglutaric acid in the body.

3. Medication: Medications such as sodium benzoate and sodium phenylbutyrate may be prescribed to reduce the levels of 3-hydroxy-3-methylglutaric acid in the body.

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

5. Gene therapy: Gene therapy may be used to replace the defective gene that is responsible for the production of 3

1. Genetic mutations in the HMGCL gene, which is responsible for the production of the enzyme 3-hydroxy-3-methylglutaryl-CoA lyase.

2. Consanguinity, or a close relationship between two individuals, such as between parents and their children.

3. Exposure to certain environmental toxins, such as lead or mercury.

4. Certain medications, such as anticonvulsants, can increase the risk of developing 3-hydroxy-3-methylglutaric aciduria.

5. A family history of the condition.

There is no cure for 3-hydroxy-3-methylglutaric aciduria, but medications can be used to help manage the symptoms. These medications include carnitine supplements, which help to reduce the levels of 3-hydroxy-3-methylglutaric acid in the body, and enzyme replacement therapy, which helps to replace the missing enzyme that is responsible for breaking down the acid. Additionally, dietary modifications may be recommended to help reduce the levels of 3-hydroxy-3-methylglutaric acid in the body.