What is Acyl-CoA Dehydrogenase, Short Chain, Deficiency?

April 21 22:21 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 short chain acyl co enzyme A dehydrogenase which is referred as the SCADD.

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

This disorder includes the few affected infants which suffer from vomiting, low blood sugar referred as hypoglycemia; there is a lack of energy which is referred as lethargy, poor feeding and a failure to gain weight and to grow at expected rates. It is referred as the failure to thrive. The other features include the poor muscle tone which is known as the hypotonia and seizures. There is a delay in the development with a small head size known as the microcephaly. The symptoms of the short chain acyl co enzyme A dehydrogenase which is referred as the SCADD deficiency are triggered by the periods of fasting or illness which includes the viral infections. In few cases the signs and synptoms do not appear until adult hood. There some individuals develop muscle weakness and wasting. The people with the gene mutations have mild symptoms that are never diagnosed. There are many bio chemical geneticists which consider it to be bio chemical phenotype or with absence of clinical phenol type.

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

There is no definite treatment for this disorder.

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

This disorder includes the mutations in ACDAS gene which causes the short chain acyl co enzyme A dehydrogenase deficiency which is referred as the SCADD. These lead to the lower levels of enzyme known as the short chain acyl co enzyme A dehydrogenase which is referred as the SCADD. 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. It is inherited and autosomal recessive in nature. It means there are two copies of a faulty gene in each cell which are required for the disorder to be inherited. If one of the copy of faulty gene is inherited the individual act as a carrier but it does not have the disorder. This disorder affects the 1 in 40 thousand to 1 lac new borns.