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This leads to a multiple vitamin deficiency, affecting the fat-soluble vitamin A, vitamin D, vitamin E, and vitamin K. [11] However, many of the observed effects are due to vitamin E deficiency in particular. [11] Acanthocytosis in a patient with abetalipoproteinemia. Signs and symptoms vary and present differently from person to person.
Essential fatty acids, or EFAs, are fatty acids that are required by humans and other animals for normal physiological function that cannot be synthesized in the body. [1] [2] As they are not synthesized in the body, the essential fatty acids – alpha-linolenic acid (ALA) and linoleic acid – must be obtained from food or from a dietary supplement.
Linoleic acid is a polyunsaturated, omega−6 fatty acid. It is a colorless liquid that is virtually insoluble in water but soluble in many organic solvents . [ 2 ] It typically occurs in nature as a triglyceride (ester of glycerin ) rather than as a free fatty acid . [ 6 ]
Lecithin cholesterol acyltransferase deficiency is a disorder of lipoprotein metabolism. [1] The disease has two forms: [2] Familial LCAT deficiency, in which there is complete LCAT deficiency, and Fish-eye disease, in which there is a partial deficiency. [3] Lecithin cholesterol acyltransferase catalyzes the formation of cholesterol esters in ...
Vertebrates are unable to synthesize polyunsaturated fatty acids because they do not have the necessary fatty acid desaturases to "convert oleic acid (18:1n-9) into linoleic acid (18:2n-6) and α-linolenic acid (18:3n-3)". [7] Linoleic acid (LA) and α-linolenic acid (ALA) are essential for human health and development, and should therefore be ...
Example of an unsaturated fat triglyceride (C 55 H 98 O 6).Left part: glycerol; right part, from top to bottom: palmitic acid, oleic acid, alpha-linolenic acid. A triglyceride (from tri-and glyceride; also TG, triacylglycerol, TAG, or triacylglyceride) is an ester derived from glycerol and three fatty acids. [1]
While dietary therapy has been shown to be effective to normalize the very-long chain fatty acid concentrations in the plasma of individuals with ALD, allogeneic hematopoietic stem cell transplants is the only treatment that can stop demyelination that is the hallmark of the cerebral forms of the disease. [7]
2,4-Dienoyl-CoA reductase deficiency was initially described in 1990 based on a single case of a black female who presented with persistent hypotonia. Laboratory investigations revealed elevated lysine , low levels of carnitine and an abnormal acylcarnitine profile in urine and blood.