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Hunter syndrome

Hunter's syndrome is a mucopolysaccharide disease caused by an enzyme deficiency of iduronate-2-sulfatase (I2S). This is also called as mucopolysaccharoidosis Type II. It was first described by Scottish physician Charles A. Hunter (1873-1955) in 1917. more...

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Definition

Hunter syndrome is a hereditary disease in which the breakdown of a mucopolysaccharide (a chemical that is widely distributed in the body outside of cells) is defective. This chemical builds up and causes a characteristic facial appearance, abnormal function of multiple organs, and in severe cases, early death.

Causes, incidence, and risk factors

Hunter syndrome is inherited as an X-linked recessive disease. This means that women carry the disease and can pass it on to their sons, but are not themselves affected.

Because girls have two X chromosomes, their normal X can provide a functioning gene even if their other X is defective. But because boys have an X and a Y, there is no normal X gene to fix the problem if the X is defective.

The metabolic abnormality that causes Hunter syndrome is a lack of the enzyme iduronate-2-sulfatase. In its absence, mucopolysaccharides collect in various body tissues, causing damage.

Affected children may develop an early-onset type (severe form) shortly after age 2 that causes a large skull, coarse facial features, profound mental retardation, spasticity, aggressive behavior, joint stiffness and death before age 20. A late-onset type (mild form) causes later and less severe symptoms.

Symptoms

Juvenile form (early-onset, severe form):

  • mental deterioration
  • severe to profound mental retardation
  • aggressive behavior
  • hyperactivity
  • short stature


Late (mild form):

  • mild to no mental retardation

Both forms:

  • coarse facial features
  • large head (macrocephaly)
  • stiffening of joints
  • increased hair (hypertrichosis)
  • deafness (progressive)
  • enlargement of internal organs such as liver and spleen
  • cardiovascular problems, especially valvular dysfunction
  • abnormal retina (back of the eye)
  • carpal tunnel syndrome

Signs and tests

Signs of the disorder that the doctor might look for include:

  • hepatomegaly (enlargement of liver)
  • splenomegaly (enlargement of spleen)
  • inguinal hernia
  • spasticity
  • heart murmur and heart valve dysfunction
  • joint contractures
  • excretion of heparan sulfate and dermatan sulfate in urine
  • decreased iduronate sulfatase enzyme activity in serum or cells

Tests that may indicate this disorder is present include:

  • urine for heparan sulfate and dermatan sulfate
  • enzyme study, decreased iduronosulfate sulfatase (may be studied in serum, white blood cells and fibroblasts)
  • genetic testing may show mutation in the iduronate sulfatase gene

Read more at Wikipedia.org


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New insights confirm the wisdom of traditional foods - The Inflammatory Syndrome - Book Review
From Townsend Letter for Doctors and Patients, 8/1/03 by Beatrice Trum Hunter

The Inflammatory Syndrome by Jack Challem John Wiley & Sons, 111 River St., Hoboken, New Jersey 07030 USA 258 pages, hardcover, appendices (medical tests to assess inflammatory products) $24.95/USA; $38.95/Can. 2003

Health professionals and the general public interested in nutrition generally relate specific foods or nutrients to roles in cardiovascular health, bone density, lowered risks of diabetes, and a host of other food/health relationships. In The Inflammatory Syndrome, Jack Challem changes the focus. He directs attention to inflammation as a central feature in a variety of health problems. Indeed, an inflammatory state is present in all major diseases and ailments.

Challem also changes our focus about the food supply. The shortcomings of the typical industrialized diet are well recognized, with its predominance of non-nutritive foods and its lack of real nourishment. However, Challem draws our attention to a factor previously unrecognized: the anti-inflammatory characteristic of nourishing foods, and the pro-inflammatory characteristic of deficient foods. By drawing our attention to the broad role that inflammation plays, Challem has added an unappreciated means for reversal of disease and assistance to the body for healing.

Until recent times, people consumed foods that had a relative balance of pro- and anti-inflammatory nutrients. Much of the problem involves the types of fatty acids in food. With the advent of the industrialized diet, the pro-inflammatory fatty acids came to predominate. In human diets, the historical ratio of omega 6 fatty acids to omega 3 fatty acids ranged from 1:1 to 2:1. In the current industrialized diet, the ratio has been altered radically, to an estimated range of 20:1 to 30:1. This altered ratio has resulted from the large intake of omega 6 fatty acids in margarines, shortenings, and vegetable oils. All of these contribute pro-inflammation factors to the diet. The anti-inflammatory nutrients are in short supply, from omega 3 fatty acids found in fish oils, flaxseed, and leafy vegetables. Omega 9 fatty acids are additional anti-inflammatory nutrients, found in olive oil, macademia nuts, and avocados. The presence of trans fatty acids, created by hydrogenating fats and oils, compounds the problem. The trans fatty acids inhibit more of the enzymes needed by the anti-inflammatory omega 3 fatty acids than those involved with the Omega 6 fatty acids. The result is that trans fatty acids interfere to a greater extent with the body's anti-inflammatory compounds.

Using an illustration that can be understood easily, Challem compares pro-inflammatory fatty acids to "matches" that initiate the inflammatory process ("fire"), and anti-inflammatory fatty acids, to "firefighters" that quench the fire. The pro-inflammatory ones are linoleic acid (in many vegetable oils such as corn, safflower, etc.), arachidonic acid, hydrogenated fats, and free radicals. The anti-inflammatory ones are alpha-linolenic acid, gamma-linolenic acid, eicosapentaenoic acid (EPA), oleic acid (in olive oil), and vitamins E and C. In addition, many flavonoids in vegetables, fruits, and herbs, counteract free radicals.

Challem demonstrates how inflammation plays a vital role in grave health conditions, and how the problems can be alleviated and even reversed, by forsaking the pro-inflammatory foods and initiating an anti-inflammatory diet. He discusses human needs for basics of proteins, fats, and carbohydrates, as well as vitamins, minerals, fibers, and phytonutrients. He offers suggestions for selecting those nutrients that are anti-inflammatory, and gives some recipes.

Challem discusses the shortcomings and hazards of using anti-inflammatory drugs, both by prescription and over-the-counter. The most common side effect is upset stomach. With chronic use, these drugs can lead to stomach wall erosion, gastritis, and gastric ulcer. He notes a recent article in the Archives of Internal Medicine reporting that the regular use of NSAIDs (non-steroid anti-inflammatory drugs), other than aspirin, doubled a person's risk of being hospitalized for heart failure. Among seniors with histories of heart disease, use of NSAIDs increased the risk of hospitalization for heart failure tenfold. Seniors are the major users of NSAIDs for rheumatoid arthritis, osteoarthritis, and other painful conditions. Also, regular NSAID use, especially aspirin and ibuprofen, accelerate cartilage breakdown in joints. Ironically, the use of NSAIDs to relieve osteoarthritic pain actually speeds up the underlying disease process characterized by the destruction of cartilage padding in the joints. Rather than grasp at some palliative help from NSAIDs, following a diet of anti-inflammatory foods seems to be a wiser measure.

The Inflammatory Syndrome is a seminal book. It forces us to regard inflammation as a central factor in disease states. It also offers hope for amelioration and possible reversal of health conditions made possible through dietary changes. It reinforces the evidence that we should forsake industrialized food, and return insofar as possible, to the nutrient-dense basic foods that have nourished us throughout the history of humankind.

Challem is a leading health reporter, and has been writing about the advances in vitamin and mineral research for more than three decades. His scientific articles have appeared in numerous medical journals. He co-authored Syndrome X, and publishes a monthly newsletter, The Nutrition Reporter, abstracting from the medical journals on subjects of nutritional supplementation and nutrition. (www.nutritionreporter.com).

COPYRIGHT 2003 The Townsend Letter Group
COPYRIGHT 2003 Gale Group

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