Succinyl-CoA:3-oxoacid CoA transferase deficiency is an inherited disorder that affects the body's ability to break down certain proteins and fats. It is caused by a deficiency of the enzyme succinyl-CoA:3-oxoacid CoA transferase, which is responsible for the transfer of a molecule of succinyl-CoA from one molecule of an organic acid to another. This enzyme is essential for the breakdown of certain proteins and fats, and when it is deficient, these substances cannot be broken down properly. Symptoms of this disorder include poor growth, vomiting, seizures, and intellectual disability. Treatment typically involves a combination of dietary modifications and medications.

The symptoms of Succinyl-CoA:3-oxoacid CoA transferase deficiency include:

-Developmental delay
-Seizures
-Hypotonia
-Feeding difficulties
-Lethargy
-Vomiting
-Liver dysfunction
-Hyperammonemia
-Hyperglycinemia
-Ketosis
-Acidosis
-Hypoglycemia
-Hypoketotic hypoglycemia

Succinyl-CoA:3-oxoacid CoA transferase deficiency is caused by mutations in the SUCLA2 gene. This gene provides instructions for making an enzyme called succinyl-CoA:3-oxoacid CoA transferase. This enzyme is involved in the breakdown of certain proteins and fats. Mutations in the SUCLA2 gene reduce or eliminate the activity of this enzyme, leading to a buildup of certain substances in the body and the signs and symptoms of the disorder.

1. Dietary management: A low-protein diet is recommended to reduce the amount of metabolites that accumulate in the body.

2. Medications: Medications such as carnitine, riboflavin, and biotin may be prescribed to help the body metabolize fatty acids and reduce the accumulation of metabolites.

3. Enzyme replacement therapy: This involves the administration of a synthetic form of the enzyme that is deficient in the body.

4. Liver transplant: In some cases, a liver transplant may be necessary to replace the damaged liver with a healthy one.

5. Gene therapy: This involves the introduction of a healthy gene into the body to replace the defective gene.

1. Genetic inheritance: Succinyl-CoA:3-oxoacid CoA transferase deficiency is an inherited disorder caused by mutations in the SCOT gene.

2. Ethnicity: Succinyl-CoA:3-oxoacid CoA transferase deficiency is more common in people of Ashkenazi Jewish descent.

3. Age: Succinyl-CoA:3-oxoacid CoA transferase deficiency is more common in infants and young children.

At this time, there is no cure for Succinyl-CoA:3-oxoacid CoA transferase 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 metabolic waste in the body.