Definition:
The LCHAD deficiency, or Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency, is a disorder affecting the autosomal recesssive fatty acid oxidation.
Diagnosis:
The disease can be be detected as early as a person's childhood, when the patient begins to display lethargic muscles, retinal disorders and hypoglycemia. Problems in the nervous system may also occur during late childhood, and when left untreated, the patient may slip into a coma or sudden death.
Symptoms and Signs:
Symptoms of the disease are often unnoticed, but damages in the heart, liver and retina may be considered as signs of LCHAD deficiency.
Causes:
LCHAD deficiency is sometimes caused by fasting. But studies show that the disease is caused by a lack of an enzyme needed to metabolize fats and fatty acids. As a result, the fats thrive in tissues and clog their ability to function normally, not to mention deteriorate after some time.
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