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 company is developing innovative therapies for the treatment of lysosomal storage disorders including neurological symptoms such as Hurler syndrome (MPS I), Hunter syndrome (MPS II), metachromatic leukodystrophy, Sanfilippo A and B syndromes, as well as other diseases with severe CNS manifestations.
Hurler Syndrome occurs when the body lacks a particular enzyme that breaks down glycosaminoglycans (GAGs), a type of sugar molecule utilized by our cells to help build bones, cartilages, tendons, corneas of the eyes, skin and other types of connective tissues.
4 compares the chromatogram from a normal control CSF sample with, on the same scale, a CSF sample from 1 of the patients with Hurler syndrome before treatment, showing the much higher concentrations of DS and HS in the patient.
Initially, the researchers experimented on the cells of patients with Hurler syndrome that were cultured in the laboratory.
Hayleigh Reynolds, eight, suffers from Hurler Syndrome, a disorder caused by a deficiency of an enzyme required to break down substances in the body.
A circumscribed prospective pilot study ideally should target a limited number of conditions, preferably those that manifest in early infancy, such as Pompe disease and Hurler syndrome, and for which an effective therapy is currently available.
Adam Miles, four, has a rare genetic condition called Hurler Syndrome.
M2 PHARMA-February 21, 2017-ArmaGen Posts Data on Cognitive Improvement in Children with Hurler Syndrome (MPS I) Treated with AGT-181
Hurler syndrome is characterized by valvular heart disease, mental deterioration, and death in childhood.
Emily, of Airdrie, Lanarkshire, suffers from a rare genetic disease called Hurler Syndrome.
She has transplanted children with leukemia; thalassemia, an inherited form of anemia; Hurler syndrome, an inherited enzyme deficiency; and the autoimmune disease histiocytosis.