Isobutyryl-CoA+Dehydrogenase+Deficiency-Jessica+H.

Isobutyryl-CoA Dehydrogenase Deficiency

**Description: ** Isobutyryl-CoA Dehydrogenase Deficiency is a condition when the breakdown of certain proteins is disrupted. People with Isobutyryl-CoA Dehydrogenase Deficiency have inadequate levels of enzyme that helps break down valine (Amino Acid)

**Inheritance: ** Isobutyryl-CoA Dehydrogenase Deficiency inherited by what is called an autosomal recessive pattern; it is when both copies of the gene in each cell have mutations. Parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene. They typically do not show any signs and symptoms. It affects boys and girls equally. Children inherit one nonworking gene for the condition from each parent. When both parents are carriers, there is a 25% chance of the child having Isobutyryl-CoA Dehydrogenase Deficiency, 50% chance of them being a carrier and 25% chance of them having two working genes (normal).

**Symptoms: ** Most people with Isobutyryl-CoA Dehydrogenase Deficiency are asymptomatic. It means that they do not have signs or symptoms. Few children develop a weakened and enlarged heart. They could also develop weak muscle tone and developmental delay. It may cause low numbers of red blood cells and very low blood levels of carnitine.

**Daily Life: **

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**Diagnosis: ** Isobutyryl-CoA Dehydrogenase Deficiency is diagnosed through many things. There are special blood tests, urine or skin samples can be down to confirm. There is also newborn screening.

**Treatment: ** Isobutyryl-CoA Dehydrogenase Deficiency is treated my medicine and a diet. Children’s medicine is L-Cartnitine. You are advised to eat frequently and eat a diet made up of foods low in valine.

**Research: ** There are many researches on Isobutyryl-CoA Dehydrogenase Deficiency. Some of the research is: Isobutyryl-CoA Dehydrogenase Deficiency with a novel ACAD8 gene mutation detected by tandem mass spectrometry newborn screening. The identification of isobutyryl-CoA dehydrogenase and its deficiency in humans. Isolated isobutyryl-CoA Dehydrogenase Deficiency: an unrecognized defect in human valine metabolism.

**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Additional Facts: ** <span style="color: black; font-family: 'Times','serif'; font-size: 12pt; line-height: normal; margin: 0in 0in 0pt;">Mutations in the ACAD8 gene cause Isobutyryl-CoA Dehydrogenase Deficiency. It has the instructions for making the Isobutyryl-CoA Dehydrogenase enzyme.ACAD8 gene mutation reduces or eliminates the activity of the Isobutyryl-CoA Dehydrogenase enzyme. <span style="color: black; font-family: 'Times','serif'; font-size: 12pt; line-height: normal; margin: 0in 0in 0pt;">Isobutyryl-CoA Dehydrogenase Deficiency is a rare disorder with only about 22 cases reported.

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