Hurler's syndrome


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Hurler's syndrome

 [hoor´lerz]
the prototypical form of mucopolysaccharidosis, with a gargoyle-like face, dwarfism, severe somatic and skeletal changes, severe mental retardation, cloudy corneas, deafness, cardiovascular defects, hepatosplenomegaly, and joint contractures. It is due to a deficiency of the enzyme α-l-iduronidase, and is transmitted as an autosomal recessive trait. Called also gargoylism.

Hurler's syndrome

Etymology: Gertrude Hurler, German physician, 1889-1965
a type of mucopolysaccharidosis, transmitted as an autosomal-recessive trait, that produces severe mental retardation. Symptoms appear within the first few months of life. Characteristic signs of the disease are enlargement of the liver and spleen, often with cardiovascular involvement. Facial characteristics include a low forehead and enlargement of the head, sometimes resulting from hydrocephalus. Corneal clouding is common, and the neck is short. Marked kyphosis is apparent at the dorsolumbar level, and the hands and the fingers are short and broad. Flexion contractures are common. The disease process usually results in death during childhood from cardiac complications or pulmonary disorders. Also called gargoylism, lipochondrodystrophy, MPS I. See also mucopolysaccharidosis.

Hurler's syndrome

One of the mucopolysaccharidoses, a group of inherited disorders. Hurler's syndrome is due to the absence of the enzyme alpha-iduronidase. There is dwarfism, many skeletal deformities, corneal opacity, heart abnormalities, mental retardation and early death. The condition was once known as ‘gargoylism’. (Gertrude Hurler, Austrian paediatrician, who described the condition in 1920)

Hurler's syndrome

mucopolysaccharidosis I.
References in periodicals archive ?
She had many of the features of Hurler's syndrome like large head, coarseness of facial features, nasal bridge was depressed, cornea was hazy, tongue was thick, contractures in the joints causing restricted mobility, in the chest there was pectus excavatum and wide ribs (Figure 1).
Hurler's syndrome (MPS IH), which is a prototype of MPS is caused by a deficiency of alpha-L-iduronidase due to a loss of function mutation leading to excessive accumulation of partially degraded GAGs, dermatan sulphate and heparan sulphate within the cells.
Citation: "Outcomes of transplantation using various hematopoietic cell sources in children with Hurler's syndrome after myeloablative conditioning"; J.
Hurler's syndrome is caused by a deficiency of a specific enzyme responsible for degrading complex sugars called glycosaminoglycans (GAGs), accumulation of which can lead to mental retardation, respiratory and cardiac complications, and death in early childhood.
In a recent article, investigators at the University of Minnesota and Athersys described preclinical study results suggesting that MultiStem cells could provide benefit to patients suffering from lysosomal storage disorders, such as Hurler's syndrome.
Hurler's syndrome is marked by mental retardation, stunted growth, and heart problems.
Researchers at Duke gave cord-blood infusions to 20 babies or toddlers diagnosed with Hurler's syndrome during a 7-year period.
Hurler's Syndrome causes mental and physical disability.
The patent applies to Hurler's Syndrome and other lysosomal storage disorders, such as Fabry's disease, Gaucher's disease, Niemann-Pick disease and Batten's disease, among many others.
Three-year-old Courtney, who suffers from debilitating Hurler's Syndrome, was told she was too young to take part in a pioneering UK trial.
She said: "A trial specifically for Hurler's Syndrome sufferers is planned so there is a possibility this young girl could meet the requirements for that.
The youngster suffers from Hurler's Syndrome, a rare enzyme deficiency disorder which leaves sufferers in a wheelchair, blind and deaf.