Sanfilippo Syndrome Research Paper

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It is an autosomal recessive lysosomal storage disease (metabolism disorder passed down through families) caused by a deficiency in one of the enzymes needed to break down the glycosaminoglycan heparan sulfate which is found in the extra-cellular matrix and on cell surface glycoproteins. It makes the body unable to properly break down the heparin sulfate sugar chain. The incompletely broken down heparan sulfate remains stored inside cells in the body and begins to build up, causing progressive damage. There are four types of sanflippo syndrome based on the defective gene that encode for the enzyme. Sanfilippo type A: A person does not have a normal working form of the enzyme called heparan N-sulfatase, Sanfilippo type B: Occurs when a person…show more content…
To break down GAG, a series of enzymes works in sequence one after another. The GAG chain is broken down by removing one sugar molecule at a time starting at one end of the GAG chain. However, individuals with Sanfilippo syndrome have too much GAG accumulation. 3. Clinical / pathological/ Symptoms Sanfilippo syndrome The symptoms generally appear between the ages of two and six.  Delayed development followed by deteriorating mental status, Sleep difficulties and Stiff joints that may not extend fully.  Behavioral problems are common and may include hyperactivity, aggressiveness, and restlessness.  Coarse facial features, Diarrhea, Full lips, heavy eyebrows that meet in the middle of the face above the nose.  Other symptoms may include incontinence, speech and hearing impairment. 4. Biochemical symptom of Sanfilippo syndrome On a biochemical level, Sanfilippo syndrome is characterized by the excess excretion of heparan sulfate in the urine and the accumulation of mucopolysaccharides in the central nervous system and other tissues. Sanfilippo syndrome is The most common disorder of mucopolysaccharide metabolism, a syndrome in which the onset of clinical abnormalities occurs between ages 2 and 6, with mild coarsening of the facial features (but normal clear corneas), mild stiffening of the joints, slowing of growth, and intellectual deterioration that results in severe mental…show more content…
Diagnosis Urine test: Because people with Sanfilippo syndrome cannot break down heparan sulfate, it builds up in cells and is excreted in the urine. A urine test to look for levels of GAG that is higher than

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