Hurler syndrome


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Related to Hurler syndrome: Hunter syndrome

Hur·ler syn·drome

(hŭr'ler),
mucopolysaccharidosis in which there are deficiency of α-l-iduronidase, accumulation of an abnormal intracellular material, and excretion of dermatan sulfate and heparan sulfate in the urine; with severe abnormality in development of skeletal cartilage and bone, with dwarfism, kyphosis, deformed limbs, limitation of joint motion, spadelike hands, corneal clouding, hepatosplenomegaly, mental retardation, and gargoylelike facies; autosomal recessive inheritance, caused by mutation in the α-l-iduronidase gene (IDUA) on 4p.
See also: mucolipidosis.
[Gertrud Hurler]

Hurler syndrome

(hûr′lər)
n.
A type of mucopolysaccharidosis (MPS IH) characterized by the presence of dermatan sulfate and heparan sulfate in the urine, skeletal abnormalities, facial dysmorphism, corneal clouding, enlargement of the liver and spleen, intellectual disability, and hearing loss.

Hurler syndrome

Hurler's disease, mucopolysaccharidosis IH Metabolic disease An AR condition caused by a defect in lysosomal α-L-iduronidase; Sx develop by end of first yr Clinical Gargoylism–coarse thick features, Breshnikov–prominent dark–eyebrows, cloudy corneas, progressive stiffness, mental retardation, heart and heart valve defects; death in early teens due to heart disease. See GL.

Hur·ler syn·drome

(hŭrlĕr sindrōm)
Mucopolysaccharidosis with a deficiency of α-l-iduronidase, an accumulation of an abnormal intracellular material, and excretion of dermatan sulfate and heparan sulfate in the urine; also characterized by severe abnormality in development of skeletal cartilage and bone, with dwarfism, kyphosis, deformed limbs, limitation of joint motion, spadelike hand, corneal clouding, hepatosplenomegaly, mental retardation, and gargoylelike facies.

Hurler,

Gertrud, German pediatrician, 1889-1965.
Hurler disease - Synonym(s): Hurler syndrome
Hurler syndrome - mucopolysaccharidosis with severe abnormality in development of skeletal cartilage and bone, corneal clouding, hepatosplenomegaly, mental retardation, and gargoyle-like facies. Synonym(s): dysostosis multiplex; Hurler disease; lipochondrodystrophy; Pfaundler-Hurler syndrome; type IH mucopolysaccharidosis
Pfaundler-Hurler syndrome - Synonym(s): Hurler syndrome
References in periodicals archive ?
* The report provides a snapshot of the global therapeutic landscape of Mucopolysaccharidosis I (MPS I) (Hurler Syndrome )
Taruc said: In my conversations with doctors, I found that a bone-marrow or cord-blood transplant is the only treatment at the moment that shows promise against the effects of Hurler Syndrome. However, aside from being very expensive, the procedure also carries a high risk of developing life-threatening complications.
Cardiac and respiratory complications are much milder than in the Hurler syndrome, with aortic and mitral valvular disease being a common feature (2).
* A snapshot of the global therapeutic scenario for Mucopolysaccharidosis I (MPS I) (Hurler Syndrome ).
In addition, we obtained CSF from 7 patients with a confirmed diagnosis of Hurler syndrome, as part of their evaluations for pretransplantation on an IRB-approved protocol that provides consent for use of CSF in biomarker research (Table 2).
Initially, the researchers experimented on the cells of patients with Hurler syndrome that were cultured in the laboratory.
CODY suffers from Hurler syndrome, an inherited and progressive disorder which damages many organs, including the heart.
The couple have requested donations to Katie's Charity, instead of gifts, to buy something for Sherbourne Fields School and The Birches Respite Home in memory of Katie, their granddaughter who died from Hurler Syndrome at the age of five.
The protein is useful in the investigation, diagnosis, and treatment of Hurler syndrome, also know as mucopolysaccharidosis I.
Patients often experience neurocognitive impairment, skeletal deformity, loss of vision and hearing, and cardiovascular and pulmonary complications, with the most severe form known as Hurler syndrome. The terms of the deal include an upfront payment in cash as well as contingent payments on the achievement of future development, regulatory and sales milestones, as well as royalty payments on net sales.
Orchid will also acquire the rights to exclusively license three additional preclinical programmes from Telethon/Ospedale San Rassaele once clinical proof of concept studies for mucopolysaccharidosis type 1 (MPS1 or Hurler syndrome), chronic granulomatous disease (CGD), and globoid cell leukodystrophy (GLD) are complete.