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 ?
'We are very pleased to have received the acceptance letter and continue to work closely with the FDA to finalize the details of the analysis methodology for primary and secondary endpoints to demonstrate efficacy of trehalose in Sanfilippo syndrome,' said Warren W.
She was later diagnosed with Sanfilippo syndrome by a pediatrician who carried out a urine test, with it being confirmed by blood tests which followed.
Isla suffers from Sanfilippo Syndrome, a form of MPS that manifests itself in developmental delay.
Orchard's pipeline includes other clinical and pre-clinical stage transformative gene therapies for immune deficiencies, including X-linked chronic granulomatous disease (X-CGD) and metabolic diseases, including MPS-IIIA and MPS-IIIB (Sanfilippo syndrome type A and type B).
[USPRwire, Thu Nov 02 2017] Mucopolysaccharidosis III (MPS III) (Sanfilippo Syndrome) - Pipeline Review, H2 2015 Summary Global Markets Direct s, Mucopolysaccharidosis III (MPS III) (Sanfilippo Syndrome) - Pipeline Review, H2 2015 , provides an overview of the Mucopolysaccharidosis III (MPS III) (Sanfilippo Syndrome) s therapeutic pipeline.
Little Hero Sophia Scott, the only youngster in Scotland with Sanfilippo syndrome, a rare and incurable genetic illness known as childhood Alzheimer's that means she may not live beyond her early teenage years, proudly showed Nicola her new outfit for the day.
United States-based Abeona Therapeutics has enrolled the first high-dose patient in the ongoing Phase 1/2 trial for ABO-102 (AAV-SGSH) in Sanfilippo Syndrome Type A, it was reported yesterday.
Because of progressive coarsening of facial features and moderate intellectual disability due to a brief intelligence quotient of 55, consistent with the diagnosis of moderate intellectual disability, biochemistry enzyme assays were performed and ruled out the diagnoses of Sanfilippo syndrome, Hurler syndrome, and Maroteaux-Lamy syndrome.
Global Markets Direct's, 'Mucopolysaccharidosis III (MPS III) (Sanfilippo Syndrome ) - Pipeline Review, H1 2016', provides an overview of the Mucopolysaccharidosis III (MPS III) (Sanfilippo Syndrome ) pipeline landscape.
We are also planning to collect all cases of Sanfilippo syndrome in our area to lock for its prevalence and also to address the importance of prenatal investigation for purpose of early intervention.
Eliza, 4, was diagnosed in 2013 with the Sanfilippo syndrome that will make Eliza's body and mind deteriorate eventually resulting to the inability to speak or walk.
He participated in a 2 year medical research study at the University of Minnesota to get medicine approved for his rare illness Sanfilippo Syndrome (MPS IIIa).