Sanfilippo syndrome

(redirected from Sanfillipo syndrome)

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.
Farlex Partner Medical Dictionary © Farlex 2012

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.
The American Heritage® Medical Dictionary Copyright © 2007, 2004 by Houghton Mifflin Company. Published by Houghton Mifflin Company. All rights reserved.

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.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.

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.
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.

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.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012

Sanfilippo,

Sylvester J., 20th century U.S. pediatrician.
Sanfilippo syndrome - Synonym(s): type III mucopolysaccharidosis
Medical Eponyms © Farlex 2012
References in periodicals archive ?
In addition to the study for patients with Sanfillipo syndrome types A and B, which are more common, Seelos is now able to offer a separate expanded access study for patients with types C and D, as well as those with A or B who don't meet the initial entry criteria.
Novogen and Genea Biocells will test the molecules in laboratory models across a range of degenerative diseases including infantile neuraxonal dystrophy, fascioscapularhumeral dystrophy, amyotrophic lateral sclerosis (motor neuron disease), Sanfillipo syndrome and Alzheimer's disease.