Malonyl-CoA is important for regulating fatty acid metabolism. A deficiency in the enzyme Malonyl-CoA decarboxylase can cause a rare disease, resulting in low blood sugar, heart muscle weakness, and delayed development. A high-fat, low-carb diet may help alleviate symptoms. The disease is inherited through two copies of a defective gene and is extremely rare.
Malonyl-CoA is a fatty acid precursor that is very important in regulating the body’s metabolism of fatty acids. It is required for the function of an enzyme known as Malonyl-CoA decarboxylase. A genetic deficiency of this enzyme can result in a very rare disease known as malonyl-CoA decarboxylase deficiency.
The human body obtains fatty acids both from food sources and from fatty acid biosynthesis. These compounds are needed to be broken down as sources of energy, as components of cellular structures such as membranes, and as hormones. Excessive amounts of carbohydrates and proteins in one’s diet can be easily converted into fatty acids. When needed for energy, fatty acids are then easily broken down.
Fatty acid metabolism involves cofactors, non-protein components that bind weakly to an enzyme, making it a coenzyme. CoA is the coenzyme used in the synthesis of fatty acids. The essential checkpoint in fatty acid biosynthesis is the production of Malonyl-CoA. This coenzyme is produced by the addition of carbon dioxide to acetyl-CoA. The role of Malonyl-CoA in fatty acid biosynthesis is to supply the growing fatty acid chains with two carbon units.
When fatty acids are needed to produce energy, the reverse reaction occurs under some conditions. Acetyl-CoA can be used in energy production. Malonyl-CoA decarboxylase catalyzes the breakdown of malonyl-CoA into acetyl-CoA and carbon dioxide. Mutations in the gene for this enzyme cause malonyl-CoA decarboxylase deficiency. This disrupts the metabolism of fatty acids in the body.
With this condition, fatty acids can no longer be converted into energy. This can lead to low blood sugar, also known as hypoglycemia. Lack of energy from fatty acids poses a particular problem for heart muscle, which relies heavily on these compounds for energy. There is also a buildup of fatty acid breakdown products, which contributes to other symptoms.
This disorder manifests itself in early childhood, almost always with delayed development. Additional symptoms include seizures, vomiting, diarrhea, and weak muscle tone. A common ailment is the weakening and enlargement of the heart muscle. Experts suggest that a high-fat, low-carb diet could mitigate some of the symptoms of this disorder.
To inherit this enzyme deficiency, a person must inherit one copy of a defective gene from each parent. A carrier with only one copy of a defective gene usually doesn’t show any symptoms. It requires two copies of defective genes to inherit a decarboxylase deficiency. Fortunately, this is an extremely rare ailment. As of 2010, fewer than 30 cases have been reported.
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