MPS I S
    
Share |
 
  

Diseasereference.net - Comprehensive articles covering over 1,700 topics. The articles are organized by the disease, condition overview, symptoms, treatment, and prevention.


Drugs search, click the first letter of a drug name:
A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z | 1 | 2 | 3 | 4 | 5 | 6 | 8 | 9

Terms search, click the first letter of a term name:
A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z

Online medical services

Medical dictionary Med-Terms.net is a searchable dictionary of medical terms from medicine and related fields. Search for medical terms with our medical dictionary.

Drugs & Medications Search our drug database for comprehensive prescription and patient information on 24,000 drugs online. Drugspedia.net - The Internet Drug Index for prescription drugs and medications.

PMS blog Premenstrual syndrome (PMS), PMS headache


Blue waffles disease, blog. Blue waffle infection, blue waffle disease pictures.

  

 

Disease Reference

Click on the first letter in the disease name:

| 4 | 5 | A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z



     

MPS I S

Definition

Scheie syndrome is an inherited disease of metabolism in which the body cannot properly break down long chains of sugar molecules called glycosaminoglycans (formerly called mucopolysaccharides).

The syndrome belongs to a group of diseases called mucopolysaccharidoses (MPS). Specifically, it is known as MPS I S.

See also:

Alternative Names

Mucopolysaccharidosis type I S; MPS I S

Causes

Persons with Scheie syndrome are missing a substance called lysosomal alpha-L-iduronidase. This substance, called an enzyme, helps break down long chains of sugar molecules called glycosaminoglycans (formerly called mucopolysaccharides). These molecules are found throughout the body, often in mucus and in fluid around the joints.

Without the enzyme, glycosaminoglycans build up and damage organs, including the heart. Symptoms can range from mild to severe.

Scheie syndrome is the mildest form of mucopolysaccharidosis type 1. The syndrome is syndrome is transmitted as an autosomal recessive trait.

Symptoms

Symptoms may not appear until age 4 or 5, and may include:

  • Coarsened facial features
  • Increased body hair (hirsutism)
  • Broad mouth with full lips
  • Cloudy cornea and progressive loss of vision, resulting in blindness
  • Prognathism
  • Stiff joints
  • Claw hands and deformed feet

Exams and Tests

A physical exam may show signs of:

An eye exam will show cloudy corneas and retinal pigmentation.

Urine tests will be done. Persons with Scheie syndrome have increased amounts of dermatan and heparan sulfate in their urine. See: Urine dermatan sulfate

Other tests may include:

  • Blood culture
  • Culture of skin fibroblasts
  • Echocardiogram
  • X-ray of the skeleton

Treatment

Enzyme replacement therapy for patients with a defect in the enzyme a-L-iduronidase is now possible. This includes individuals with Scheie syndrome, but also Hurler and Hurler-Scheie syndromes.

Early recognition and treatment of spinal cord compression can prevent permanent nerve damage. Treatment is also given for heart problems caused by leaky valves.

Support Groups

The National MPS Society -- www.mpssociety.org

Outlook (Prognosis)

Scheie syndrome is compatible with an almost normal lifespan. However, some disabilities such as limitation of joints, blindness, or deafness are likely to occur later in life.

Possible Complications

  • Vision problems
  • Hearing loss and deafness
  • Extremity deformities
  • Compression of the spinal cord, which can lead to loss of nerve function
  • Problems with the aortic valve

When to Contact a Medical Professional

Call your health care provider if you have a family history of this disease or if you have symptoms suggestive of this disorder.

Prevention

Genetic counseling is recommended for prospective parents with a family history of Scheie syndrome.

Email to a Friend


Your Name:

Friend's Email:



More about MPS I S - Drugs.com
   MPS I S
Mesothelioma (benign-fibrous)
Mesenteric venous thrombosis
Myasthenia gravis
Asthma - pediatric
Cellulitis
Ethylene glycol intoxication
Acute interstitial (allergic) nephritis
Respiratory syncytial virus (RSV)
Actinomycosis pulmonary



 
  
Medical dictionary | Natural mosquito repellents | Dust mites pictures | Prescription Drug Information | new 401k rules | Hyperkeratosis pilaris treatment
© Copyright by Diseasereference.net 2006-2007. All rights reserved