Hurler's syndrome


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Hurler's syndrome

[′hər·lərz ‚sin‚drōm]
(medicine)
Mucopolysaccharoidosis I, a hereditary condition transmitted as an autosomal recessive in which there is excessive chondroitin sulfate B and heparin sulfate in the urine and tissues, and which is marked clinically by a complex of symptoms including grotesque skeletal and facial deformities, skin and cardiac changes, clouding of the cornea, and mental deficiency. Also known as gargoylism; lipochondrodystrophy.
References in periodicals archive ?
A 6-year-old girl with known Hurler's syndrome presented to our outpatient department with Umbilical Hernia since two and a half years.
These stem cells, modified so they produce large quantities of the enzyme that people with Hurler's syndrome lack, offer great hope for a potential new therapy.
Hurler's syndrome is the severe form of MPS type1, or mucopolysaccharidoses.
For many of the inborn errors of metabolism, BMT functions as permanent enzyme replacement therapy In Hurler's syndrome, the most commonly studied, up to 80% of patients are cured if BMT is done prior to onset of organ dysfunction.
Further, our ongoing research, which is in the analysis phase, may help refine how we treat young patients with Hurler's syndrome by providing additional evidence on the link between cord blood enzyme levels and long-term outcomes.
Hurler's syndrome is a lysosomal storage disorder that affects approximately one of every 100,000 children.
In the first study to analyze this practice over several years, scientists report success--a high survival rate, manageable side effects, and a general reversal of Hurler's syndrome in most babies getting the treatment.
Robyn - the face of the campaign - suffers from the terminal illness Hurler's syndrome and her parents regularly use Scotland's only children's hospice, Rachel House, near Kinross.
Courtney faces surgery to remove her tonsils and adenoids later this month as she battles to ward off debilitating Hurler's Syndrome.
Lindsey Devine, whose daughter Katie has a rare genetic condition called Hurler's syndrome, was invited to attend the Royal College of Nursing to contribute to the project.
The article by investigators at the University of Minnesota and scientists from Athersys describes preclinical study results suggesting that the stem cells could provide benefit to patients suffering from lysosomal storage disorders, such as Hurler's Syndrome.
Courtney has a form of Hurler's Syndrome which causes her to suffer a rare enzyme deficiency.