I need help with Hunter Syndrome??

Question

Is Hunter syndrome a shortened form of Huntington's disease??
This is a question for my biology homework...&& i need help....
Please help.
Thankz for any good answers.

Answer 1

http://en.wikipedia.org/wiki/Hunter_syndrome

all you need to know should be there! take care! SD

Answer 2

Ramsay Hunt Syndrome Emedicine

Answer 3

2

Answer 4

1

Answer 5

It's an X-linked disease, and it is NOT Huntington's. See website: http://rarediseases.about.com/cs/huntersyndrome/a/022204.htm

Answer 6

I see some one has givin you links where you can find help.. God bless you and I will be praying for you and your daughter...

Answer 7

Hunter Syndrome
From Mary Kugler, R.N.,
Your Guide to Rare Diseases.
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Inherited storage disease
Mucopolysaccharidosis Type II, called Hunter syndrome, is an inherited disorder in which an enzyme, iduronate-2-sulfatase (I2S), is deficient. I2S is involved in the breakdown of complex carbohydrates called mucopolysaccharides. Without enough I2S, partially broken-down mucopolysaccharides accumulate in the organs and tissues of the body and become toxic.

Who gets it?
Hunter syndrome is an X-linked disorder, meaning that it is transmitted on the female X chromosome from a mother to her children. Therefore, the syndrome is most often seen in males, although rare female cases have been reported. Hunter syndrome can occur in any ethnic group; a slightly higher incidence has been noted in the Jewish population living in Israel. It may occur as frequently as 1 individual per 65,000 births to as rarely as 1 individual in 132,000 births.

Type A
Hunter syndrome is divided into two types.
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Type A is the severe form, which usually is diagnosed in children aged 18-36 months. It is considered the classic form. Children with type A may survive into the second and third decades of life. Symptoms in type A may include:

* coarse facial features and short stature
* enlarge liver and spleen
* progressive and profound mental retardation
* ivory-colored skin lesions on the upper back and sides of the upper arms and thighs
* skeletal changes, joint stiffness, short neck, broad chest, and too-large head
* progressive deafness
* atypical retinitis pigmentosa and visual impairment

These symptoms are very similar to those of Hurler syndrome, but Hurler syndrome worsens much faster than Hunter syndrome type A.

Type B
Type B Hunter syndrome is much milder than type A and may not be diagnosed until adulthood. Individuals with type B may live into their 70s. Their physical features are similar to those in type A. Individuals with type B, however, usually have normal intelligence and do not have the severe skeletal problems of type A.

Diagnosis
In type A Hunter syndrome, the child's appearance combined with other symptoms such as enlarged liver and spleen and the ivory-colored skin lesions (considered a marker for the syndrome) can suggest the child has mucopolysaccharidosis. Type B Hunter syndrome is much harder to identify, and might only be recognized when looking at the maternal relatives of a child with Hunter syndrome.

In either type, the diagnosis can be confirmed by a blood test for deficiency of I2S. Also, mucopolysaccharides may be present in the urine. X-rays can reveal bone changes characteristic of Hunter syndrome.

Treatment
No cure yet exists for Hunter syndrome, so medical care is directed towards relieving its symptoms. The respiratory tract may become obstructed from cell damage, so good respiratory care and monitoring is important. Many specialists are involved in the care of an individual with Hunter syndrome, including a geneticist to counsel the family and relatives about transmission of the syndrome.

Enzyme replacement
Researchers have been testing to see whether a synthetic form of I2S can stop Hunter syndrome from getting worse. Shire plc (which purchased Transkaryotic Therapies) has conducted clinical trials on its version, called Elaprase, studying its effects in 96 individuals with Hunter syndrome over 52 weeks. Shire has applied to both the U.S. Food and Drug Administration (FDA) and the European Medicines Agency (EMEA) for marketing approval of Elaprase.

Last updated 12/21/05

Information for this article was taken from:
- Fenton, C. I. (2002). Mucopolysaccharidosis Type II. eMedicine, accessed at http://www.emedicine.com/ped/topic1029.htm.
- ClinicalTrials.gov. Iduronate-2-sulfatase Enzyme Replacement Therapy in Mucopolysaccharidosis II (MPS II). Accessed at http://www.clinicaltrials.gov.
Updated: December 22, 2005

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Hunter syndrome
From Wikipedia, the free encyclopedia
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Hunter syndrome
Classifications and external resources ICD-10 E76.1
ICD-9 277.5
OMIM 309900
DiseasesDB 6050
MedlinePlus 001203
eMedicine ped/1029
MeSH D016532

Hunter syndrome, or mucopolysaccharoidosis Type II, is a lysosomal storage disease caused by a deficient (or absent) enzyme, iduronate-2-sulfatase (I2S). The syndrome is named after Scottish physician Charles A. Hunter (1873-1955), who first described it in 1917.
Contents
[hide]

* 1 About Hunter Syndrome
* 2 The Diagnosis of Hunter Syndrome (MPS II)
* 3 The Genetics of Hunter Syndrome (MPS II)
* 4 The Biochemistry of Hunter Syndrome (MPS II)
* 5 Hunter Syndrome Signs and Symptoms
* 6 Affliction Rates
* 7 Treatment
* 8 Sympathetic Murder
* 9 See also
* 10 External links
* 11 Source
* 12 Reference

[edit] About Hunter Syndrome

Hunter syndrome, or mucopolysaccharidosis II (MPS II), is a serious genetic disorder that primarily affects males. It interferes with the body's ability to break down and recycle specific mucopolysaccharides (mew-ko-pol-ee-sak-ah- rides), also known as glycosaminoglycans (gli-ko-sah-mee-no-gli-cans) or GAG. Hunter syndrome is one of several related lysosomal storage diseases.

In Hunter syndrome, GAG build up in cells throughout the body due to a deficiency or absence of the enzyme iduronate-2-sulfatase (I2S).This buildup interferes with the way certain cells and organs in the body function and leads to a number of serious symptoms. As the buildup of GAG continues throughout the cells of the body, signs of Hunter syndrome become more visible. Physical manifestations for some people with Hunter syndrome include distinct facial features, a large head, and an enlarged abdomen. People with Hunter syndrome may also experience hearing loss, thickening of the heart valves leading to a decline in cardiac function, obstructive airway disease, sleep apnea, and enlargement of the liver and spleen. Range of motion and mobility may also be affected. In some cases of Hunter syndrome, central nervous system involvement leads to developmental delays and nervous system problems. Not all people with Hunter syndrome are affected by the disease in exactly the same way, and the rate of symptom progression varies widely. However, Hunter syndrome is always severe, progressive, and life-limiting.

[edit] The Diagnosis of Hunter Syndrome (MPS II)

The visible signs and symptoms of Hunter syndrome (MPS II) in younger people are usually the first clues leading to a diagnosis. In general, the time of diagnosis usually occurs from about 2 to 4 years of age. Doctors may use laboratory tests to provide additional evidence that an MPS disorder is present, before making a definitive diagnosis by measuring the iduronate-2-sulfatase (I2S) enzyme activity. The most commonly used laboratory screening test for an MPS disorder is a urine test for GAG. It is important to note that the urine test for GAG can occasionally be normal and yet the child still may have an MPS disorder. A definitive diagnosis of Hunter syndrome is made by measuring I2S activity in serum, white blood cells, or fibroblasts from skin biopsy. In some people with Hunter syndrome, analysis of the I2S gene can determine clinical severity. Prenatal diagnosis is routinely available by measuring I2S enzymatic activity in amniotic fluid or in chorionic villus tissue.

[edit] The Genetics of Hunter Syndrome (MPS II)

Hunter syndrome (MPS II) affects at least 1 in 162,000 people. Since Hunter syndrome is an inherited disorder (X-linked recessive) that primarily affects males, it is passed down from one generation to the next in a specific way. Nearly every cell in the human body has 46 chromosomes, with 23 derived from each parent. The I2S gene is located on the X chromosome. Females have two X chromosomes, one inherited from each parent, whereas males have one X chromosome that they inherit from their mother and one Y chromosome that they inherit from their father. If a male has an abnormal copy of the I2S gene, he will develop Hunter syndrome. A male can obtain an abnormal copy of the I2S gene in one of two ways. His mother is often a carrier; i.e., she has one abnormal and one normal I2S gene, and she passes along the abnormal gene to him. However, during egg and sperm formation, a mutation can develop in the I2S gene on his X chromosome. In this second case, the mother is not a carrier and the risk of a spontaneous mutation occurring again in a future sibling is low but not zero. Females can carry one abnormal copy of the I2S gene and are usually not affected. Hunter syndrome has been reported to occur in females [citation needed].

[edit] The Biochemistry of Hunter Syndrome (MPS II)

The human body depends on a vast array of biochemical reactions to support critical functions, including the production of energy, growth and development, communication within the body, and protection from infection. Another critical function is the breakdown of large biomolecules, which is the underlying problem in Hunter syndrome (MPS II) and related storage disorders. The biochemistry of Hunter syndrome is related to a problem in a part of the connective tissue of the body known as the extracellular matrix. This matrix is made up of a variety of sugars and proteins and helps to form the architectural framework of the body. The matrix surrounds the cells of the body in an organized meshwork and functions as the glue that holds the cells of the body together. One of the parts of the extracellular matrix is a complex molecule called a proteoglycan. Like many components of the body, proteoglycans need to be broken down and replaced. When the body breaks down proteoglycans, one of the resulting products is mucopolysaccharides, otherwise known as GAG.There are several types of GAG, each found in certain characteristic places in the body

In Hunter syndrome, the problem concerns the breakdown of two GAG: dermatan sulfate and heparan sulfate. The first step in the breakdown of dermatan sulfate and heparan sulfate requires the lysosomal enzyme I2S. In people with Hunter syndrome, this enzyme is either partially or completely inactive. As a result, GAG build up in cells throughout the body, particularly in tissues that contain large amounts of dermatan sulfate and heparan sulfate. As this buildup continues, it interferes with the way certain cells and organs in the body function and leads to a number of serious symptoms. The rate of GAG buildup is not the same for all people with Hunter syndrome, resulting in a wide spectrum of medical problems.

[edit] Hunter Syndrome Signs and Symptoms

The symptoms of Hunter syndrome (MPS II) are generally not apparent at birth, but usually start to become noticeable after the first year of life. Often, the first symptoms of Hunter syndrome may include inguinal hernias, ear infections, runny noses, and colds. Since these symptoms are quite common among all infants, they are not likely to lead a doctor to make a diagnosis of Hunter syndrome right away. As the buildup of GAG continues throughout the cells of the body, signs of Hunter syndrome become more visible. Physical manifestations of many children with Hunter syndrome include a distinctive coarseness in their facial features, including a prominent forehead, a nose with a flattened bridge, and an enlarged tongue. For this reason, unrelated children with Hunter syndrome often look alike. They may also have a large head as well as an enlarged abdomen. Many continue to have frequent infections of the ears and respiratory tract.

The continued storage of GAG in cells can lead to organs being affected in important ways. The thickening of the heart valves along with the walls of the heart can result in progressive decline in cardiac function. The walls of the airway may become thickened as well, leading to breathing problems while sleeping (obstructive airway disease). People with Hunter syndrome may also have limited lung capacity due to pulmonary involvement. As the liver and spleen grow larger with time, the belly may become distended, making hernias more noticeable. All major joints (including the wrists, elbows, shoulders, hips, and knees) may be affected by Hunter syndrome, leading to joint stiffness and limited motion. Progressive involvement of the finger and thumb joints results in decreased ability to pick up small objects. The effects on other joints, such as hips and knees, can make it increasingly difficult to walk normally. If carpal tunnel syndrome develops, a further decrease in hand function can occur. The bones themselves may be affected, resulting in short stature. In addition, pebbly, ivory-colored skin lesions may be found on the upper arms and legs and upper back of some people with Hunter syndrome. The presence or absence of the skin lesions is not helpful, however, in predicting clinical severity in Hunter syndrome. Finally, the storage of GAG in the brain can lead to delayed development with subsequent mental retardation. The rate and degree of progression may be different for each person with Hunter syndrome.

There is a broad range of severity in the symptoms of Hunter syndrome. It is important to note that though the term "mild" is used by physicians in comparing people with Hunter syndrome, the effects of even mild disease are quite serious. Two of the most significant areas of variability concern the degree of mental retardation and expected lifespan. Some people who have Hunter syndrome are not mentally retarded and live into their 20s or 30s; there are occasional reports of people who have lived into their 50s or 60s. The quality of life remains high in a large number of people, and many adults are actively employed. In contrast, others with Hunter syndrome develop severe mental impairment and have life expectancies of 15 years or less.

[edit] Affliction Rates

There are estimated to be approximately 2,000 people afflicted with Hunter Syndrome worldwide, 500 of which live in the United States.

[edit] Treatment

On July 24, 2006, a synthetic version of I2S, called Elaprase, was approved by the United States Food and Drug Administration as an enzyme replacement treatment for Hunter syndrome.

ELAPRASE is a purified form of the lysosomal enzyme iduronate-2-sulfatase and is produced by recombinant DNA technology in a human cell line.

Clinical Trial Results - A 53-week, randomized, double-blind, placebo-controlled Phase II/III trial demonstrated that ELAPRASE provides clinically important benefits to Hunter syndrome patients. The primary efficacy endpoint of the trial was a composite analysis of changes from baseline in two clinical measures: a 6-minute walk test and percent predicted forced vital capacity. Shire is pleased to report that this endpoint achieved statistical significance compared to placebo. After one year of treatment, patients receiving weekly infusions of ELAPRASE experienced a mean increase in the distance walked in six minutes of 35 meters compared to patients receiving placebo.

Safety Data - Treatment with ELAPRASE was generally well-tolerated by patients in the Phase II/III trial. Adverse reactions were commonly reported in association with infusions, and were generally mild to moderate. The ELAPRASE label includes a boxed warning with information on the potential for hypersensitivity reactions. The boxed warning states that “Anaphylactoid reactions, which may be life threatening, have been observed in some patients during ELAPRASE infusions. Therefore, appropriate medical support should be readily available when ELAPRASE is administered. Patients with compromised respiratory function or acute respiratory disease may be at risk of serious acute exacerbation of their respiratory compromise due to infusion reactions, and require additional monitoring.”

In all phases of clinical study for ELAPRASE, 11 patients experienced significant hypersensitivity reactions during 19 of 8,274 infusions (0.2%) and no patients discontinued treatment permanently as a result of a hypersensitivity reaction. The most common adverse events observed in >30% of patients during the Phase II/III trial were pyrexia, headache and arthralgia.

Fifty-one percent (32 of 63) of patients in the weekly ELAPRASE treatment arm in the pivotal clinical study (53-week placebo-controlled study with an open-label extension) developed anti-idursulfase IgG antibodies.

Cost - ELAPRASE may be one of the most expensiive drugs ever produced, with an estimated cost of $300,000.00 per patient, per year. http://www.cbc.ca/cp/health/060725/x072509.html

Elaprase was originally developed by a company called Transkaryotic Therapies (TKT) of Cambridge, MA. TKT was aquired by Shire in 2005. http://pubs.acs.org/cen/news/83/i17/8317ebusc2.html

[edit] Sympathetic Murder

On July 24, 2004, Andrew Wragg, 38, of Worthing, West Sussex, England, suffocated his 10 year old son Jacob with a pillow, because of the boy's disabilities related to Hunter syndrome. On December 13, 2005 Andrew Wragg walked out of Lewes Crown Court Monday a free man after a jury determined that he did not murder his 10-year-old son. A military security specialist, Wragg also claimed that he was under stress after returning from the war in Iraq. He denied murdering Jacob, but pleaded guilty to manslaughter by reason of diminished capacity. Mrs. Justice Anne Rafferty, calling the case "exceptional", gave Wragg a two-year prison sentence for manslaughter, then suspended his sentence for two years. Rafferty said there was "nothing to be gained" from sending Wragg to prison for the crime.

"Father cleared of murdering son" (BBC News) http://news.bbc.co.uk/1/hi/england/southern_counties/4350153.stm "Former SAS soldier who smothered terminally ill son walks free" (The Guardian) http://www.guardian.co.uk/crime/article/0,2763,1666015,00.html "Review 'will clarify murder laws'" (BBC News) http://news.bbc.co.uk/2/hi/uk_news/politics/4523760.stm

[edit] See also

* Genetic counseling
* Prenatal testing

[edit] External links

* Hunter Syndrome. About.
* Hunter Syndrome Patient/Family Resources. CCHS Resources.
* doctor/1094 at Who Named It - Charles A. Hunter
* Hunterpatients.com. Hunterpatients.com.
* [1]. Elaprase (idursulfase) website.

[edit] Source

* Hunter Syndrome. Medline Plus.

[edit] Reference

* Hunter CA: A rare disease in two brothers. Proceedings of the Royal Society of Medicine, London, 1917, 10: 104-116

v • d • e
Metabolic pathology (E70-90)[hide]

amino-acids Phenylketonuria - Alkaptonuria - Ochronosis - Tyrosinemia - Maple syrup urine disease - Propionic acidemia - Methylmalonic acidemia - Isovaleric acidemia - Primary carnitine deficiency - Cystinuria - Cystinosis - Hartnup disease - Homocystinuria - Citrullinemia - Hyperammonemia - Glutaric acidemia type 1
carbohydrates Lactose intolerance - Glycogen storage disease (type I, type II, type III, type IV, type V), Fructose intolerance, Galactosemia
Lipid storage disorders Gangliosidosis - GM2 gangliosidoses (Sandhoff disease, Tay-Sachs disease) - GM1 gangliosidoses - Mucolipidosis type IV - Gaucher's disease - Niemann-Pick disease - Farber disease - Fabry's disease - Metachromatic leukodystrophy - Krabbe disease - Neuronal ceroid lipofuscinosis - Batten disease - Cerebrotendineous xanthomatosis - Wolman disease - Cholesteryl ester storage disease
List of fatty acid metabolism disorders - Hyperlipidemia - Hypercholesterolemia - Familial hypercholesterolemia - Xanthoma - Combined hyperlipidemia - Lecithin cholesterol acyltransferase deficiency - Tangier disease - Abetalipoproteinemia
mineral metabolism Disorders of calcium metabolism - Hypophosphatemia - Hypophosphatasia - Wilson's disease - Menkes disease - Hypermagnesemia - Hypomagnesemia - Hypercalcaemia - Hypocalcaemia
fluid, electrolyte and acid-base balance Electrolyte disturbance - Hypernatremia - Hyponatremia - Respiratory acidosis - Metabolic acidosis - Lactic acidosis - Hypervolemia - Hypokalemia - Hyperkalemia - Mixed disorder of acid-base balance - Hyperchloremia - Hypochloremia - Dehydration
porphyrin and bilirubin Acatalasia - Gilbert's syndrome - Crigler-Najjar syndrome - Dubin-Johnson syndrome - Rotor syndrome - Porphyria (Acute intermittent porphyria, Gunther's disease, Porphyria cutanea tarda, Erythropoietic protoporphyria, Hepatoerythropoietic porphyria, Hereditary coproporphyria, Variegate porphyria)
glycosaminoglycan Mucopolysaccharidosis - Hurler syndrome - Hunter syndrome - Sanfilippo syndrome - Morquio syndrome
glycoprotein I-cell disease - Pseudo-Hurler polydystrophy - Aspartylglucosaminuria - Fucosidosis - Alpha-mannosidosis - Sialidosis
other Alpha 1-antitrypsin deficiency - Cystic fibrosis - Familial Mediterranean fever - Lesch-Nyhan syndrome
Retrieved from "http://en.wikipedia.org/wiki/Hunter_syndrome"

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