About Multiple acyl-CoA dehydrogenase deficiency

What is Multiple acyl-Co Dehydrogenase deficiency?

Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare genetic disorder that affects the body's ability to break down certain fats. It is caused by a deficiency in one or more of the enzymes responsible for breaking down fatty acids, resulting in the accumulation of toxic substances in the body. Symptoms of MADD can include seizures, developmental delays, and muscle weakness. Treatment typically involves dietary changes and medications to reduce the levels of toxic substances in the body.

What are the symptoms of Multiple acyl-Co Dehydrogenase deficiency?

The symptoms of Multiple acyl-CoA dehydrogenase deficiency (MADD) vary depending on the type of MADD, but can include:

-Developmental delay
-Seizures
-Lethargy
-Poor feeding
-Vomiting
-Liver dysfunction
-Hypoglycemia
-Cardiomyopathy
-Muscle weakness
-Exercise intolerance
-Hypotonia
-Lactic acidosis
-Hyperammonemia
-Hyperuricemia
-Hyperlipidemia
-Growth retardation

What are the causes of Multiple acyl-Co Dehydrogenase deficiency?

Multiple acyl-CoA dehydrogenase deficiency (MADD) is caused by mutations in the ACADM gene, which provides instructions for making an enzyme called multiple acyl-CoA dehydrogenase. This enzyme is involved in breaking down certain fats (called fatty acids) for energy production. When the ACADM gene is mutated, the enzyme does not work properly, leading to a buildup of fatty acids in the body. This can cause a variety of symptoms, including seizures, developmental delays, and heart and liver problems.

What are the treatments for Multiple acyl-Co Dehydrogenase deficiency?

The primary treatment for Multiple acyl-CoA dehydrogenase deficiency is dietary management. This includes a low-fat diet, avoidance of fasting, and supplementation with medium-chain triglycerides (MCTs). Other treatments may include carnitine supplementation, enzyme replacement therapy, and gene therapy. In some cases, a liver transplant may be necessary.

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

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

2. Ethnicity: Multiple acyl-CoA dehydrogenase deficiency is more common in certain ethnic groups, including Ashkenazi Jews, French Canadians, and Cajuns.

3. Gender: Multiple acyl-CoA dehydrogenase deficiency is more common in males than females.

4. Age: Multiple acyl-CoA dehydrogenase deficiency can occur at any age, but is most commonly diagnosed in infancy.

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

At this time, there is no cure for Multiple acyl-CoA dehydrogenase deficiency (MADD). However, there are medications that can help manage the symptoms of MADD. 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, dietary modifications may be recommended to help manage the symptoms of MADD.