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Fatty-acid metabolism disorders result when both parents of the diagnosed subject are carriers of a defective gene. This is known as an autosomal recessive disorder. Two parts of a recessive gene are required to activate the disease. If only one part of the gene is present then the individual is only a carrier and shows no symptoms of the disease.
Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency or MCADD) is a disorder of fatty acid oxidation that impairs the body's ability to break down medium-chain fatty acids into acetyl-CoA.
Lipid storage diseases can be inherited two ways: Autosomal recessive inheritance occurs when both parents carry and pass on a copy of the faulty gene, but neither parent show signs and symptoms of the condition and is not affected by the disorder. Each child born to these parents have a 25 percent chance of inheriting both copies of the ...
Severe forms may have continual pain from general life activity. The adult form has a variable age of onset. The first appearance of symptoms usually occurs between 6 and 20 years of age but has been documented in patients as young as 8 months as well as in adults over the age of 50. Roughly 80% cases reported to date have been male. [citation ...
This is likely due to lactose intolerance, a condition making it hard to digest lactose, a sugar found in dairy products. Most newborns are able to produce lactase, an enzyme crucial for the ...
In both Wolman disease and Cholesteryl ester storage disease there is a deficiency of lysosomal acid lipase which causes an array of symptoms with in the body. The inability to break down fats in Wolman's disease causes symptoms of: [1] Abdominal distention; Adrenal calcification; Hepatic failure; Hepatomegaly; Nausea and vomiting; Steatorrhea ...
A recent study suggests that a carbohydrate-rich breakfast for men and a fat-rich breakfast for women may be best for maintaining a healthy weight, due to sex-specific metabolic differences.
The study, which involved 106 peri- and postmenopausal women and was presented at the Endocrine Society’s annual meeting in May, indicates women should self-monitor their vasomotor symptoms and ...