Sanfilippo syndrome

(redirected from Sanfilippo disease)

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 ?
The four-year-old has Sanfilippo disease, an incurable illness which will destroy his brain functions and physical ability.
Jack Baird, from Sunderland in the north of England, suffers from Sanfilippo disease - a rare fatal childhood disease that will gradually destroy his physical and mental ability, leading to his death in childhood.
Children with Sanfilippo disease experience progressive deterioration of mental function, similar to dementia, in early childhood, with other symptoms including severe behavioural problems, hyperactivity and ultimately death in early teens," Bigger said.
Luke, who suffers from Sanfilippo disease, a degenerative terminal condition which means the body can't break down waste from individual cells, also loves spending time at Butterwick Hospice.
The couple have been using Acorns' services for ten years for Faye who has the rare Sanfilippo disease and who needs care around the clock.
The couple have been using Acorns' services for the past 10 years for 15-year-old Faye, who has the rare Sanfilippo disease that affects her mobility and speech and requires care around the clock.
He suffers from a rare genetic disorder called Sanfilippo Disease and requires 24-hour care, Sanfilippo, which affects one in 85, 000 births, is classed as an MPS disease -- Mucopolysaccharide -- for which there is no cure.
Doctors diagnosed Bethany with Sanfilippo disease, a rare genetic condition which meant she would die in her early teens.
Both of the boys have been struck down with the rare genetic illness Sanfilippo Disease.
Two-year-old Jack has been diagnosed with Sanfilippo disease, an incurable condition which will destroy his brain functions and physical ability.
SANFILIPPO Disease takes its name from Dr Sanfilippo, from the USA, one of the first doctors to describe the condition in 1963.
Almost pounds 200 went to Luke Chapman, three, who suffers from Sanfilippo Disease, a degenerative condition, to help pay for a ramp at his Hartlepool home.