Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type is a rare, inherited metabolic disorder that affects the body's ability to break down certain fats. It is caused by a deficiency of multiple acyl-CoA dehydrogenase enzymes, which are responsible for breaking down long-chain fatty acids. Without these enzymes, fatty acids build up in the body and can cause serious health problems. Symptoms of this disorder typically appear in the first few days of life and can include poor feeding, vomiting, seizures, and coma. If left untreated, this disorder can be fatal. Treatment typically involves a combination of dietary changes, medications, and supplements.

The symptoms of Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type, include:

-Lethargy
-Poor feeding
-Vomiting
-Seizures
-Liver dysfunction
-Hypoglycemia
-Hyperammonemia
-Cardiomyopathy
-Respiratory distress
-Developmental delay
-Movement disorders
-Hypotonia
-Feeding difficulties
-Failure to thrive
-Lactic acidosis
-Cardiac arrhythmias

Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type is caused by mutations in the ACADM gene. This gene provides instructions for making an enzyme called medium-chain acyl-CoA dehydrogenase (MCAD). This enzyme is involved in breaking down certain fats (called medium-chain fatty acids) into energy. Mutations in the ACADM gene reduce or eliminate the activity of MCAD, leading to a buildup of medium-chain fatty acids in the body. This buildup can cause a variety of symptoms, including seizures, coma, and death in severe cases.

The primary treatment for Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type is dietary management. This includes a low-fat diet, with a focus on providing adequate calories and essential fatty acids. In addition, supplementation with carnitine and riboflavin may be recommended. In some cases, medications such as valproic acid may be prescribed to help reduce the severity of symptoms. In severe cases, a liver transplant may be necessary.

1. Genetic mutation: Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type is caused by a genetic mutation in the ACADM gene.

2. Family history: Having a family history of Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type increases the risk of developing the condition.

3. Ethnicity: Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type is more common in certain ethnic groups, such as Ashkenazi Jews.

4. Gender: Females are more likely to be affected by Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type than males.

Yes, there is a cure for Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type. The treatment for this condition is a low-fat diet and dietary supplements of carnitine, which helps the body break down fat. In some cases, medications such as riboflavin and biotin may also be prescribed. In addition, enzyme replacement therapy may be used to help the body break down fatty acids.