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 ?
Although Sanfilippo syndrome is a rare genetic disorder but has a usual presentation.
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.
The brothers, now aged 25 and 17, suffer from Sanfilippo syndrome, a genetic condition which means they are missing an enzyme that breaks down sugar molecules in the brain.
Tragic Tillie Mae Mawdsley, four, has not said "Mummy" for months as she succumbs to rare condition Sanfilippo syndrome, which she was diagnosed with two years ago.
Aaron Craig was diagnosed with sanfilippo syndrome when he was 11.
For example, mutations in the genes that cause phenylketonuria and Sanfilippo syndrome in humans do not cause these diseases in macaque monkeys.
Chloe has been described as a 'delightful' youngster whose tragic death came just three years after her brother Jordan died from the degenerative condition sanfilippo syndrome which he had battled since he was seven.
Caitlin Powell, the daughter of Ben and Emma Powell, was diagnosed in March with Sanfilippo Syndrome, which affects one in 25,000 children and cannot be regressed.
The 12-year-old suffers from rare Sanfilippo Syndrome, which has left her unable to walk or talk and in need of constant care.
Born with a rare, degenerative disease called Sanfilippo syndrome, Tommy lacks a critical enzyme needed for proper organ and brain development.