Sanfilippo syndrome

Sanfilippo syndrome
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 ...
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Sanfilippo syndrome
Dr Trisha Macnair
There are four types of Sanfilippo syndrome, whose symptoms are often first seen between the ages of two and six. Here we look at the causes of this disorder and the most common symptoms.
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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.
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Mucopolysaccharidosis type IIID: Sanfilippo syndrome due to deficiency of the enzyme N-acetylglucosamine 6-sulfatase. See also: Mucopolysaccharidosis.
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