2-Methylbutyryl-CoA dehydrogenase deficiency is an inherited disorder that affects the body's ability to break down certain amino acids. It is caused by a deficiency in the enzyme 2-methylbutyryl-CoA dehydrogenase, which is responsible for breaking down the amino acid leucine. People with this disorder may experience a variety of symptoms, including poor feeding, vomiting, seizures, and developmental delays. Treatment typically involves dietary modifications and supplementation with certain vitamins and minerals.

The symptoms of 2-methylbutyryl-CoA dehydrogenase deficiency include:

-Developmental delay
-Seizures
-Feeding difficulties
-Vomiting
-Lethargy
-Hypotonia
-Hyperammonemia
-Hyperglycinemia
-Elevated levels of 2-methylbutyryl-CoA in the blood and urine
-Lactic acidosis
-Ketosis
-Organic aciduria

2-Methylbutyryl-CoA dehydrogenase deficiency is caused by mutations in the ACADM gene, which provides instructions for making an enzyme called 2-methylbutyryl-CoA dehydrogenase. This enzyme is involved in breaking down certain fats called branched-chain fatty acids. Mutations in the ACADM gene reduce or eliminate the activity of this enzyme, leading to an accumulation of branched-chain fatty acids in the body. This accumulation can cause a variety of symptoms, including intellectual disability, seizures, and movement problems.

1. Dietary management: A low-protein diet is recommended to reduce the amount of 2-methylbutyryl-CoA produced in the body.

2. Supplementation: Supplementation with carnitine, riboflavin, and thiamine may help to reduce the symptoms of 2-methylbutyryl-CoA dehydrogenase deficiency.

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

4. Gene therapy: Gene therapy may be used to introduce a functional copy of the gene that is responsible for producing the missing enzyme.

5. Liver transplant: In some cases, a liver transplant may be necessary to treat the condition.

1. Genetic inheritance: 2-methylbutyryl-CoA dehydrogenase deficiency is an inherited disorder caused by mutations in the ACADM gene.

2. Ethnicity: 2-methylbutyryl-CoA dehydrogenase deficiency is more common in people of Ashkenazi Jewish descent.

3. Age: 2-methylbutyryl-CoA dehydrogenase deficiency is more common in infants and young children.

At this time, there is no cure for 2-methylbutyryl-CoA dehydrogenase deficiency. However, there are medications that can help manage the symptoms of the disorder. These medications include carnitine supplements, which help to increase the levels of carnitine in the body, and anticonvulsants, which can help to reduce the frequency and severity of seizures. Additionally, a low-protein diet may be recommended to help reduce the amount of 2-methylbutyryl-CoA in the body.