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Citrin deficiency (CD) is an inherited autosomal recessive metabolic condition and a urea cycle disorder. Citrin deficiency is a complex disorder with several age-dependent phenotypes. A hallmark symptom of citrin deficiency is a strong dietary preference for foods rich in protein and fat, while being low in carbohydrates.
Very long-chain acyl-coenzyme A dehydrogenase deficiency is a fatty-acid metabolism disorder which prevents the body from converting certain fats to energy, particularly during periods without food. [1] [2] [3] Those affected by this disorder have inadequate levels of an enzyme that breaks down a group of fats called very long-chain fatty acids.
The term fatty acid oxidation disorder (FAOD) is sometimes used, especially when there is an emphasis on the oxidation of the fatty acid. [3]In addition to the fetal complications, they can also cause complications for the mother during pregnancy.
Deficiency in omega−3 fatty acids are very common. The average American has a dietary ratio between omega−6 fatty acids and omega−3 fatty acids of 20:1. When the two EFAs were discovered in 1923, they were designated "vitamin F", but in 1929, research on rats showed that the two EFAs are better classified as fats rather than vitamins. [8]
Signs and symptoms of mitochondrial trifunctional protein deficiency that may begin after infancy include hypotonia, muscle pain, a breakdown of muscle tissue, and a loss of sensation in the extremities called peripheral neuropathy. Some who have MTP deficiency show a progressive course associated with myopathy, and recurrent rhabdomyolysis. [2 ...
LCHAD deficiency Long-chain 3-hydroxyacyl-coenzyme; A dehydrogenase deficiency has an autosomal recessive pattern of inheritance. Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency is a rare autosomal recessive fatty acid oxidation disorder [ 1 ] that prevents the body from converting certain fats into energy.
Biotin is an important water-soluble nutrient that aids in the metabolism of fats, carbohydrates, and proteins. Biotin deficiency can result in behavioral disorders, lack of coordination, learning disabilities and seizures. Biotin supplementation can alleviate and sometimes totally stop such symptoms.
Acid lipase disease or deficiency is a name used to describe two related disorders of fatty acid metabolism. Acid lipase disease occurs when the enzyme lysosomal acid lipase that is needed to break down certain fats that are normally digested by the body is lacking or missing. This results in the toxic buildup of these fats in the body's cells ...