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 ?
Patients with Hurler's syndrome showed an increase in blood leukocyte Idua enzyme, the enzyme that is deficient in untreated patients with Hurler's syndrome, suggesting that transplant with MGTA-456 is beginning to affect the disease in these patients.
A 6-year-old girl with known Hurler's syndrome presented to our outpatient department with Umbilical Hernia since two and a half years.
"There are two current treatments for Hurler's syndrome: costly enzyme replacement therapy or bone marrow transplants which require a perfectly matched donor," said Dr Sharon Byers, affiliate senior lecturer within the School of Molecular and Biomedical Sciences.
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.
Citation: "Outcomes of transplantation using various hematopoietic cell sources in children with Hurler's syndrome after myeloablative conditioning"; J.
Hurler's syndrome is a lysosomal storage disorder that affects approximately one of every 100,000 children.
Hurler's syndrome is a rare hereditary condition caused by the lack of an enzyme needed to regulate basic cell functions.
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.
Hurler's Syndrome causes mental and physical disability.
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.
(ATHX) said a published scientific article describes positive results of a preclinical study in mice evaluating the administration of its stem cell product for the treatment of MPS-t (or Hurler's Syndrome).