Function
The first reaction in B-oxidation, or fatty acid metabolism, is the catalyzation of the ester bond (C2 and C3) of the substrate Acyl-CoA. This is accomplished through Acyl-CoA Dehydrogenase (ACDH) and its cofactor FAD. ACDH is classified according to its length of its substrates: short (SCAD), medium (MCAD), very and very long-chain (VLCAD).
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. 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
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References
