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As with most other fatty acid oxidation disorders, individuals with MCADD need to avoid fasting for prolonged periods of time. During illnesses, they require careful management to stave off metabolic decompensation, which can result in death. [2] Supplementation of simple carbohydrates or glucose during illness is key to prevent catabolism. [3]
Treatment and management of VLCAD deficiency involve dietary restrictions as well as implementation of proper hydration to avoid further complications. Hospitalization due to VLCAD deficiency can be treated with intravenous (IV) glucose for hydration and alkalization of urine and prevention of renal malfunction or failure. [ 10 ]
Inborn errors of metabolism are often referred to as congenital metabolic diseases or inherited metabolic disorders. [2] Another term used to describe these disorders is "enzymopathies". This term was created following the study of biodynamic enzymology , a science based on the study of the enzymes and their products.
Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCAD deficiency or MCADD), caused by mutations in the ACADM gene; Mast cell activation disorder, a disease; Microsoft Certified Application Developer; Mechanical computer-aided design
[2] [7] The symptoms of short-chain acyl-CoA dehydrogenase deficiency may be triggered during illnesses such as viral infections. In some cases, signs and symptoms may not appear until adulthood, when some individuals may develop muscle weakness, while other individuals mild symptoms may never be diagnosed.
It is essential that the blood-glucose levels remain at adequate levels to prevent the body from moving fat to the liver for energy. This involves snacking on low-fat, high-carbohydrate nutrients every 2–6 hours. However, some adults and children can sleep for 8–10 hours through the night without snacking. [1] [7]
Since feeding and eating disorders in children can cause dangerous risks to the child, it is important to seek treatment as soon as possible. Cognitive behavioral therapy can be incredibly beneficial to children with feeding or eating disorders. Family therapy is usually encouraged in order to keep all members involved in nourishing the child.
Looking at the molecular basis, two distinct homozygous mutations are found to cause malonic aciduria in human. The first mutation is the transversion of gene from C to G causing a premature stop signal in the protein. The second mutation is a base pair insertion in the mature RNA that will eventually result in the protein truncation. [4]