Sanfilippo syndrome


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San·fi·lip·po syn·drome

(san-fi-lē'pō), [MIM*252900, MIM*252920, MIM*252930,]
an error of the mucopolysaccharide metabolism, with excretion of large amounts of heparan sulfate in the urine; characterized by severe mental retardation with hepatomegaly; skeleton may be normal or may present mild changes similar to those in Hurler syndrome; several different types (A, B, C, and D) have been identified according to the enzyme deficiency; autosomal recessive inheritance.

San·fi·lip·po syn·drome

(san-fi-lē'pō), [MIM*252900, MIM*252920, MIM*252930,]
an error of the mucopolysaccharide metabolism, with excretion of large amounts of heparan sulfate in the urine; characterized by severe mental retardation with hepatomegaly; skeleton may be normal or may present mild changes similar to those in Hurler syndrome; several different types (A, B, C, and D) have been identified according to the enzyme deficiency; autosomal recessive inheritance.

Sanfilippo syndrome

(săn′fə-lĭp′ō)
n.
A type of mucopolysaccharidosis (MPS III) characterized by the presence of heparan sulfate in the urine, developmental delay, intellectual disability, hearing loss, and usually enlargement of the liver and spleen.

mucopolysaccharidosis III

An autosomal recessive condition caused by a mutation of NAGLU on chromosome 17q21 that encodes alpha-N-acetyl-glucosaminidase, which degrades heparan sulfate by hydrolysing terminal N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides. Loss of the enzyme causes mucopolysaccharidosis type IIIB (Sanfilippo syndrome B), which is characterised by the lysosomal accumulation and increased excretion of heparan sulfate in urine.
 
Clinical findings
Relatively late onset, coarse facies, slow mental development progressing to severe mental retardation, stiff joints, gait disturbances, speech defects, behavioural problems, survival into the twenties or later.

Sanfilippo syndrome

Alpha-N-acetylglucosaminidase deficiency, mucopolysaccharidosis type III A common AR Tay-Sachs-like disease of late infant onset Clinical Coarse facies, ↓ mental development progressing to severe retardation, stiff joints, gait disturbances, speech disturbances, behavioral problems,↑ startle reflex, early blindness, doll-like facies, mental and physical deterioration, cherry red spots on retina, macrocephaly; cornea is clear; survival is longer than with Tay-Sachs, often to age 20+. See Hurler syndrome, Mucopolysaccharidosis.

San·fi·lip·po syn·drome

(san-fi-lip'pō sin'drōm)
An error of mucopolysaccharide metabolism, with excretion of large amounts of heparan sulfate in the urine; characterized by severe mental retardation with hepatomegaly; skeleton may be normal or may present mild changes similar to those in Hurler syndrome; several different types (A, B, C, and D) have been identified according to the enzyme deficiency; autosomal recessive inheritance.

Sanfilippo,

Sylvester J., 20th century U.S. pediatrician.
Sanfilippo syndrome - Synonym(s): type III mucopolysaccharidosis
References in periodicals archive ?
Belonging to the group of mucopolysaccharidosis, Mucopolysaccharidosis IIIB (MPS IIIB) or Sanfilippo Syndrome Type B is a lysosomal storage disease.
Glenn shared that they see the disease affecting Eliza every day so they are working hard in giving their daughter as well as other children with the Sanfilippo syndrome the chance to see if the clinical trial can work.
Bryce suffers from the most severe form of recessive genetic disorder, Sanfilippo syndrome, which occurs in one of 70,000 births.
Her daughter Jade, 10, has Sanfilippo syndrome - a rare enzyme deficiency which eventually leaves its victims wheelchair-bound and prone to seizures.
Caitlin Powell, aged two from West Heath, suffers from Sanfilippo Syndrome, a regressive condition with no known cure.
Yet Caitlin suffers from Sanfilippo Syndrome, a fatal disease which will gradually destroy her tiny body.
She has the third strain, called Sanfilippo syndrome or MPS III, which is marked by severe neurological symptoms.
Caitlin Powell suffers from Sanfilippo Syndrome, also known as MPS type 3, which affects the body's ability to break down sugar due to an enzyme deficiency.
Tayyaba and Zarrar Beg's three daughters, Abeerah, 6, Khansa, 4, and Zahra, 2, have Sanfilippo syndrome.
Chelsey, Iowa's top middle level volunteer, was recognized for actively volunteering with other members of her family to spread awareness about MPS III, a rare genetic disorder also known as Sanfilippo syndrome.
Sanfilippo syndrome was discovered at the University of Minnesota, and our team is uniquely prepared and excited to help assess treatment for these patients.