Sanfilippo syndrome
Key points
- Sanfilippo syndrome is one of the hereditary mucopolysaccharide storage diseases, which are characterized by the absence of one of several enzymes.
- Sanfilippo syndrome is transmitted as an autosomal recessive trait.
- Treatment There is no specific treatment for Sanfilippo syndrome.
- Severe retardation is the most important of the clinical problems.
Alternative names
Mucopolysaccharidosis type III (subtypes A - B - C - D); Heparan sulfate sulfatase deficiency (Type IIIA); N-acetylglucosaminidase deficiency (Type IIIB); Acetyl-CoA alpha-glucosaminide N-acetyltransferase deficiency (Type IIIC); N-acetylglucosamine-6-sulfate sulfatase deficiency (Type IIID)
Definition
Sanfilippo syndrome is one of the hereditary mucopolysaccharide storage diseases, which are characterized by the absence of one of several enzymes. Normally, these enzymes help rid the body of a substance found outside of our cells, called a mucopolysaccharide.
In Sanfilippo syndrome, large amounts of a mucopolysaccharide called heparan sulfate is excreted in the urine.
Causes, incidence, and risk factors
Sanfilippo syndrome is transmitted as an autosomal recessive trait. It is possibly the most common of the mucopolysaccharide storage diseases. In Sanfilippo syndrome, onset is relatively late, rather than during the first year of life.
As with most of the mucopolysaccharide storage diseases, affected individuals have coarse facial features, decreased mental development that progresses to severe mental retardation, stiff joints, gait disturbances, speech disturbances, and behavioral problems.
Unlike Hurler syndrome, in people with Sanfilippo syndrome, the cornea is clear, the condition is not as unrelenting, and survival times are longer, often into the 20s or later.
Symptoms
- Family history of Sanfilippo syndrome
- May have normal growth during first few years, but final height is below average
- Delayed development followed by deteriorating mental status
- Deterioration of gait
- Coarse facial features
- Full lips
- Heavy eyebrows that meet in the middle of the face above the nose
- Diarrhea
- Stiff joints that may not extend fully
Signs and tests
- Hepatomegaly (liver enlargement)
- Spleen enlargement
- Clear corneas
- Echocardiogram may show thickened heart
- Abnormal bone X-rays, such as thickened skull and oval vertebrae
- Seizures, mental retardation
- Activities of one of the enzymes listed in "Alternate Names" may be low in fibroblast skin cells
Written and revised by
Andrey Nailor, M.D.
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