What is Acyl-CoA Dehydrogenase, Very Long Chain, Deficiency?

April 21 22:19 2019 Print This Article

It is defined as a disorder in which there is a problem in the fatty acid oxidation. It is an inborn error of the metabolism. It occurs due to the defects present in the enzyme complex to break the certain group of fatty acids and is known as the very long chain acyl co enzyme A dehydrogenase which is referred as the VLCADD.

What is the diagnosis of Acyl-CoA dehydrogenase, very long chain, deficiency?

This disorder includes the few affected infants which suffer from muscle weakness, low blood sugar referred as hypoglycemia, there is a lack of energy which is referred as lethargy. The symptoms of the very long chain acyl co enzyme A dehydrogenase which is referred as the VLCADD deficiency are triggered by the periods of fasting or illness which includes the viral infections. In few cases the signs and symptoms do not appear until adult hood. A high risk of liver and heart problems is associated.

What is the genetics of Acyl-CoA dehydrogenase, very long chain, deficiency?

This disorder includes the mutations in ACADVL gene which causes the very long chain acyl co enzyme A dehydrogenase deficiency which is referred as the VLCADD. These lead to the lower levels of enzyme known as the very long chain acyl co enzyme A dehydrogenase which is referred as the VLCADD. It is important for the breakdown of short chain fatty acids. It also prevents the further breakdown of enzyme and is processed in the mitochondrion which is the energy producing centre of cell. So, these fatty acids are not changed into energy which leads to the signs and symptoms of this disorder including the lethargy and hypo glycemia. The levels of very long chain fatty acids or partially degraded fatty acids build in the tissues and damage the heart, liver and muscles which leads to the complications.

What is the treatment of Acyl-CoA dehydrogenase, very long chain, deficiency?

There is no definite treatment for this disorder.

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