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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.
Over time, the buildup of fats may cause permanent cellular and tissue damage, particularly in the brain, peripheral nervous system, liver, spleen, and bone marrow. Inside cells under normal conditions, lysosomes convert, or metabolize, lipids and proteins into smaller components to provide energy for the body.
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 ...
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 ...
One easy way to gauge if you have a healthy amount of belly fat is by measuring waist circumference, which is generally considered 35 inches or less for most women and 40 inches or less for most men.
Exocrine pancreatic insufficiency (EPI) is the inability to properly digest food due to a lack or reduction of digestive enzymes made by the pancreas.EPI can occur in humans and is prevalent in many conditions [1] such as cystic fibrosis, [2] Shwachman–Diamond syndrome, [3] different types of pancreatitis, [4] multiple types of diabetes mellitus (Type 1 and Type 2 diabetes), [5] advanced ...
Harvard researchers analyzed 30 years of data on over 106,000 participants from the Nurses’ Health Study and the Health Professionals Follow-Up Study. The study included 70,467 women and 36,464 men.
[4] [12] Dual-energy X-ray Absorptiometry may be useful by providing both regional %fat measurements, and direct visualization of fat distribution by means of a "fat shadow". [13] A genetic confirmation is sometimes possible, depending on the subtype. However, in up to 40% of partial lipodystrophy patients, a causative gene has not been ...