Sanfilippo syndrome

Description:

Sanfilippo syndrome is an inherited disease of metabolism that makes the body unable to properly brake down long chains of sugar molecules called “Glycosaminoglycans” (formerly called mucopolysachharides). Sanfilippo Syndrome occurs when the substances (enzymes) needed to break down the heparan sulfate sugar chain are missing or are defective.

Inheritance:

Sanfilippo syndrome is inherited by “Autosomal recessive” genes which is when two copies of an abnormal gene must be present in order for the disease or trait to develop. Both of your parents must pass this trait over you in order for you to get Sanfilippo Syndrome.

Symptoms:

Symptoms appear within the first few years of life. Learning ability is declined between ages 2-6 years old. Also: Their final height is below average, delayed development/ deteriorating mental status. Some other symptoms are: Behavioral problems, coarse facial features, diarrhea, full lips, heavy eyebrows that meet in the middle of the face above the nose, Sleep difficulties, Stiff joints that may not extend fully, and walking problems.

Daily Life:

Diagnosis:

Sanfilippo Syndrome is diagnosed in different ways. A physical exam may show signs of liver and spleen swelling. Eye exams will show clear corneas while a Neurological testing will show signs of seizures and mental retardation. Another test that could diagnose you for Sanfilippo Syndrome is a Urine test which will show that if you have Sanfilippo Syndrome you will have large amounts of a “ Mucopolysaccharide” called “Heparan Sulfate” in the urine. Other test include: Blood test, Culture, Echocardiogram, Slit lamp eye, Skin Fibroblast culture, X-rays of the bones, A skin Biopsy, a Special blood test that measures the activity of the deficient enzyme.

Treatment:

The treatment for Snafilippo Syndrome has not been set but there are some things you can do to improve your situation like: Genetic counseling is recommended for prospective parents with a family history of Sanfilippo Syndrome. Another type of Sanfilippo Syndrome called “MPS III” there’s a treatment called “Enzyme replacement therapy” which helps the body make “Alpha-L iduronidase. There’s also a bone marrow transplant that can improve some symptoms of the disease. To prevent mental retardation, a bone marrow transplant probably should be done at a very young age; other treatment depends on the organs affected. But as for morquio- Sanfilippo Syndrome :

Research:
Some research I did showed that:
  • Genetic counseling is recommended for parents with a family history of Sanfilippo Syndrome.
  • Counseling is also recommended for families who have a child with Sanfilippo Syndrome, to try and help them too understand the condition of the child and possible treatments.
  • There are no specific treatments available at the time.
  • Provide adequate nutrition and seizure control
  • Antiepileptic drugs can be used for the seizures which are usually easy to control.
  • Evaluation by a neurologist.
  • A doctor who specializes in disease of the brain and the nervous system, it’s necessary to monitor for and treat seizures.
  • Research is being done to find a treatment by enzyme or gene replacement.

Additional Facts:
  • About “1 in 70,000” births do they see Sanfilippo Syndrome.
  • Other possible complications are: Blindness, inability to care for self, mental retardation, Nerve damage that slowly gets worse and eventually requires wheelchair use, and seizures.
  • When to contact a doctor: If your child doesn’t seem to be growing or developing normally and if you plan on having children and you have a family history of Sanfilippo Syndrome.
  • The outlook: The Syndrome causes neurological symptoms including: Severe retardation where IQ’s may be below 50.
Life expectancy: Most people with this disease usually live into their teens, nut symptoms appear most severe in type A Sanfilippo Syndrome.

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Resources:

http://www.nlm.nih.gov/medlineplus/,
http://www.webmd.com/
http://dir.yahoo.com/Health/Diseases_and_Conditions/
http://rarediseases.info.nih.gov/
http://www.dmoz.org/Health/Conditions_and_Diseases/Genetic_Disorders/

Include hyperlink to websites that you used as part of your research.Pub Med Health