About Short chain acyl-CoA dehydrogenase deficiency

What is Short chain acyl-Co Dehydrogenase deficiency?

Short chain acyl-CoA dehydrogenase deficiency (SCADD) is an inherited disorder that affects the body's ability to break down certain fats. It is caused by a deficiency of the enzyme short-chain acyl-CoA dehydrogenase (SCAD). This enzyme is responsible for breaking down short-chain fatty acids, which are found in some foods and are also produced by the body. Without this enzyme, these fatty acids cannot be broken down and instead build up in the body, leading to a variety of symptoms. Symptoms of SCADD can include vomiting, seizures, poor feeding, and developmental delays. Treatment typically involves a low-fat diet and supplements of medium-chain fatty acids.

What are the symptoms of Short chain acyl-Co Dehydrogenase deficiency?

The symptoms of Short chain acyl-CoA dehydrogenase deficiency (SCADD) vary from person to person, but can include:

- Poor feeding
- Vomiting
- Lethargy
- Seizures
- Developmental delay
- Hypotonia
- Abnormal movements
- Abnormal breathing
- Abnormal heart rate
- Abnormal liver function tests
- Abnormal blood sugar levels
- Abnormal blood ammonia levels
- Abnormal urine ketone levels
- Abnormal urine organic acid levels
- Abnormal urine amino acid levels
- Abnormal urine acylcarnitine levels
- Abnormal urine orotic acid levels
- Abnormal urine glycerol levels
- Abnormal urine lactate levels
- Abnormal urine succinate levels
- Abnormal urine citrate levels

What are the causes of Short chain acyl-Co Dehydrogenase deficiency?

Short chain acyl-CoA dehydrogenase deficiency (SCADD) is caused by mutations in the ACADS gene. These mutations lead to a deficiency in the enzyme short-chain acyl-CoA dehydrogenase, which is responsible for breaking down certain fatty acids. This deficiency can lead to a buildup of these fatty acids in the body, resulting in a variety of symptoms.

What are the treatments for Short chain acyl-Co Dehydrogenase deficiency?

1. Dietary therapy: A low-fat diet is recommended to reduce the amount of fat that needs to be metabolized.

2. Supplementation: Supplementation with carnitine, riboflavin, and coenzyme Q10 may help to improve the body’s ability to metabolize fat.

3. Medication: Medications such as riboflavin, biotin, and thiamine may be prescribed to help improve the body’s ability to metabolize fat.

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 with a healthy gene.

What are the risk factors for Short chain acyl-Co Dehydrogenase deficiency?

1. Genetic inheritance: Short chain acyl-CoA dehydrogenase deficiency is an inherited disorder caused by mutations in the ACADS gene.

2. Ethnicity: The disorder is more common in individuals of Ashkenazi Jewish descent.

3. Age: The disorder is more common in infants and young children.

4. Gender: The disorder is more common in males than females.

Is there a cure/medications for Short chain acyl-Co Dehydrogenase deficiency?

Yes, there is a cure for Short chain acyl-CoA dehydrogenase deficiency. Treatment typically involves a combination of dietary modifications, medications, and supplements. Dietary modifications may include avoiding certain foods that are high in fat, such as dairy products, and increasing the intake of carbohydrates. Medications such as carnitine and riboflavin may be prescribed to help the body metabolize fats and carbohydrates. Supplements such as Coenzyme Q10 and omega-3 fatty acids may also be recommended.