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 caused by a deficiency of the enzyme short-chain acyl-CoA dehydrogenase (SCAD). This enzyme is involved in the breakdown of certain fats and is essential for normal metabolism. When the enzyme is deficient, the body is unable to properly break down these fats, leading to a buildup of toxic substances in the body. Symptoms of SCADD can include seizures, developmental delays, and muscle weakness. Treatment typically involves dietary changes and supplementation with carnitine, a compound that helps the body break down fats.

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
- Weakness
- Seizures
- Developmental delays
- Hypoglycemia
- Abnormal muscle tone
- Abnormal movements
- Abnormal heart rhythms
- Liver dysfunction
- Elevated levels of certain acids in the blood

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, which provides instructions for making an enzyme called short-chain acyl-CoA dehydrogenase. This enzyme is involved in breaking down certain fats (called short-chain fatty acids) for energy. Mutations in the ACADS gene reduce or eliminate the activity of this enzyme, leading to a buildup of short-chain fatty acids in the body. This buildup can cause a variety of symptoms, including seizures, developmental delays, and muscle weakness.

What are the treatments for Short Chain Acyl Co Dehydrogenase Deficiency?

1. Dietary management: A low-fat diet is recommended to reduce the amount of fatty acids in the body.

2. Supplementation: Supplementation with carnitine, riboflavin, and coenzyme Q10 may help to reduce symptoms.

3. Medication: Medications such as valproic acid and biotin may be prescribed to help reduce symptoms.

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. Family history of SCAD deficiency
2. Genetic mutations in the ACADS gene
3. Exposure to certain environmental toxins
4. Low levels of carnitine in the body
5. Low levels of Coenzyme A in the body
6. Low levels of certain vitamins and minerals, such as thiamine, riboflavin, and magnesium
7. Certain medications, such as valproic acid and isoniazid

Is there a cure/medications for Short Chain Acyl Co Dehydrogenase Deficiency?

Yes, there are medications available to treat Short Chain Acyl CoA Dehydrogenase Deficiency. These medications are designed to replace the missing enzyme and help the body break down fatty acids. Additionally, dietary changes may be recommended to reduce the amount of fat in the diet and help the body better absorb nutrients.