This is a default text for your page '. Click above on edit this page' to modify. Be careful with the < and > signs.
You may include any references to papers as in: the use of JSmol in Proteopedia [1] or to the article describing Jmol [2] to the rescue.
Each subunit of a medium-chain acyl-CoA dehydrogenase enzyme is composed of three structural domains. The N-terminal 𝛼-helix domain, the 𝛽-sheet domain, and the C-terminal 𝛼-helix domain.
Function
Disease
Short chain acyl-CoA dehydrogenase deficiency (SCADD) is a genetically inherited disorder affecting mitochondrial fatty acid oxidation. SCADD results in an increase concentration of butyrylcarnitine and ethylmalonic acid in the urine and the plasma. Symptoms of SCADD can range from asymptomatic to severe metabolic or neurotransmitter disabilities. This means that individuals affected by SCADD may show no symptoms at all or a very severe phenotype. Most of the mutations that cause SCADD are missense mutations and impair protein folding. This can result in a toxic accumulation of the impaired protein, which can lead to oxidative stress. The genes that cause SCADD and their associations are widely questioned and as a result, SCADD screening is often not on required for newborn babies.
Short chain acyl-CoA dehydrogenase deficiency is an autosomal recessive disorder. This mutation is caused by alterations in the gene ACADS.
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is a disorder that affects fatty acid oxidation and can be characterized by a hypoglycemic crisis during times of increased stressed. This deficiency is the most common metabolic defect of fatty acid oxidation. MCADD is a flavoprotein that catalyzes the first reaction in 𝛽-oxidation of fatty acids. Such metabolic reactions are necessary for energy production, especially during periods of fasting. Expression of MCADD results in a decrease of ketone production and an increase in medium-chain fatty acid concentration.
MCADD is a disorder inherited genetically through an autosomal recessive trait, and it is caused by mutations in the medium-chain acyl- CoA dehydrogenase (ACADM) gene. The ACADM gene is located on chromosome 1p31. There are over 90 different ACADM gene mutations known so far, most of which are missense mutations.The disorder can lead to symptoms such as a loss in appetite as well as vomiting and diarrhea. This can result in accumulated concentrations of acylcarnitine, which can be potentially toxic. People who are affected and not diagnosed are at a high risk of dying or experiencing permanent neurological damage during their first metabolic crisis. To prevent such events, immediate care should follow catabolic stress and fasting should be averted. Individuals living with MCADD are asymptomatic up until there is an increased demand for energy followed by a prolonged time of fasting. Newborn screening is now widely implemented through the use of liquid chromatography-tandem mass spectrometry.
Relevance
Structural highlights
This is a sample scene created with SAT to by Group, and another to make of the protein. You can make your own scenes on SAT starting from scratch or loading and editing one of these sample scenes.
