Hurler syndrome

Hurler syndrome An inherited error of metabolism characterized by deficiency of the enzyme alpha-L-iduronidase, which normally breaks down molecules called mucopolysaccharides. Without the activity of this enzyme, mucopolysaccharides accumulate abnormally in the tissues of the body. There are two clinical subtypes of disease due to deficiency of alpha-L-iduronidase: Hurler syndrome and Scheie syndrome. Hurler syndrome…

Huntington’s disease

Huntington’s disease A genetic degenerative disorder of the brain cells characterized by progressive mental and physical deterioration that leads to death. Abbreviated HD. Although HD is usually an adult-onset disorder, it can affect children as well. The average survival time is 15 to 18 years after the onset of symptoms. Mood disturbance is usually the…

Hunter syndrome

Hunter syndrome A genetic metabolic disorder that arises from deficiency of the enzyme iduronate sulfatase, resulting in tissue deposits of molecules called mucopolysaccharides. Hunter syndrome is inherited as an X-linked recessive trait. The characteristic features of Hunter syndrome include dwarfism, bone deformities, a thickened, coarse face, hepatosplenomegaly (enlargement of the liver and spleen) from mucopolysaccharide…

humoralism

humoralism An ancient theory holding that health came from balance between the bodily liquids termed humors. Disease was thought to arise when imbalance occurred between the humors. The humors were phlegm (water), blood, gall (black bile, thought to be secreted by the kidneys and spleen), and choler (yellow bile secreted by the liver). The humoral…