About Transient neonatal multiple acyl-CoA dehydrogenase deficiency

What is Transient neonatal multiple acyl-Co Dehydrogenase deficiency?

Transient neonatal multiple acyl-CoA dehydrogenase deficiency (TNMAD) is a rare, inherited metabolic disorder that affects newborns. It is caused by a deficiency of multiple acyl-CoA dehydrogenase enzymes, which are responsible for breaking down fatty acids in the body. Symptoms of TNMAD include vomiting, poor feeding, lethargy, and seizures. If left untreated, TNMAD can lead to severe neurological damage and even death. Treatment typically involves a combination of dietary changes, medications, and supplements.

What are the symptoms of Transient neonatal multiple acyl-Co Dehydrogenase deficiency?

The symptoms of Transient neonatal multiple acyl-CoA dehydrogenase deficiency can vary from mild to severe and can include:

-Poor feeding
-Vomiting
-Lethargy
-Weakness
-Hypoglycemia
-Liver dysfunction
-Hypotonia
-Seizures
-Developmental delay
-Cardiomyopathy
-Respiratory distress
-Hyperammonemia
-Metabolic acidosis

What are the causes of Transient neonatal multiple acyl-Co Dehydrogenase deficiency?

Transient neonatal multiple acyl-CoA dehydrogenase deficiency is caused by mutations in the ACADM gene. This gene provides instructions for making an enzyme called multiple acyl-CoA dehydrogenase, which is involved in breaking down certain fats (lipids) in the body. Mutations in the ACADM gene reduce or eliminate the activity of this enzyme, leading to a buildup of lipids in the body and the signs and symptoms of this disorder.

What are the treatments for Transient neonatal multiple acyl-Co Dehydrogenase deficiency?

Treatment for transient neonatal multiple acyl-CoA dehydrogenase deficiency (TNMAD) is primarily supportive. This includes providing adequate nutrition, monitoring for signs of metabolic decompensation, and providing supportive care such as oxygen and respiratory support. In some cases, medications such as carnitine and riboflavin may be prescribed to help manage symptoms. In severe cases, a liver transplant may be necessary.

What are the risk factors for Transient neonatal multiple acyl-Co Dehydrogenase deficiency?

1. Family history of the disorder
2. Maternal diabetes
3. Maternal obesity
4. Maternal use of certain medications, such as valproic acid
5. Maternal alcohol use
6. Maternal smoking
7. Maternal age over 35
8. Advanced paternal age
9. Low birth weight
10. Premature birth

Is there a cure/medications for Transient neonatal multiple acyl-Co Dehydrogenase deficiency?

At this time, there is no cure for Transient neonatal multiple acyl-CoA dehydrogenase deficiency. However, there are medications that can help manage the symptoms of the condition. These medications include carnitine supplements, which help to reduce the levels of acylcarnitines in the blood, and anticonvulsants, which can help to control seizures. Additionally, a low-fat diet and regular monitoring of blood levels can help to manage the condition.