Isobutyryl-CoA dehydrogenase deficiency is an inherited disorder caused by a deficiency of the enzyme isobutyryl-CoA dehydrogenase. This enzyme is involved in the breakdown of certain amino acids, and when it is deficient, the body is unable to properly break down these amino acids. This can lead to a buildup of toxic substances in the body, which can cause a variety of symptoms, including seizures, developmental delays, and movement disorders.

The symptoms of Isobutyryl-CoA dehydrogenase deficiency can vary from person to person, but may include:

-Developmental delays
-Seizures
-Feeding difficulties
-Growth delays
-Lethargy
-Poor muscle tone
-Liver dysfunction
-Hypoglycemia
-Hyperammonemia
-Hyperammonemic encephalopathy
-Hypoketotic hypoglycemia
-Cardiomyopathy
-Lactic acidosis
-Hyperbilirubinemia
-Hypercholesterolemia
-Hypertriglyceridemia
-Hyperuricemia
-Hyperammonemia
-Hyperammonemic encephalopathy
-Hypoketotic hypoglycemia
-Cardiomyopathy
-Lactic acidosis

Isobutyryl-CoA dehydrogenase deficiency is caused by mutations in the ACAD8 gene. These mutations lead to a decrease in the activity of the enzyme isobutyryl-CoA dehydrogenase, which is responsible for breaking down isobutyryl-CoA, a byproduct of the metabolism of certain amino acids. This deficiency can lead to a buildup of isobutyryl-CoA in the body, which can cause a variety of symptoms, including seizures, developmental delays, and movement disorders.

The primary treatment for Isobutyryl-CoA dehydrogenase deficiency is dietary management. This includes a low-protein diet, with an emphasis on high-quality proteins, and supplementation with essential fatty acids. Other treatments may include carnitine supplementation, vitamin B12 injections, and medications to reduce the accumulation of toxic metabolites. In some cases, a liver transplant may be necessary.

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

At this time, there is no cure for Isobutyryl-CoA dehydrogenase deficiency. However, there are medications that can help manage the symptoms of the disorder. 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 the disorder.