Hurler syndrome

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Related to Mucopolysaccharidosis i: Mucopolysaccharidosis iii

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 ?
* Coverage of the Mucopolysaccharidosis I (MPS I) (Hurler Syndrome ) pipeline on the basis of route of administration and molecule type.
* Identify and understand important and diverse types of therapeutics under development for Mucopolysaccharidosis I (MPS I) (Hurler Syndrome ).
* The report provides a snapshot of the global therapeutic landscape of Mucopolysaccharidosis I (MPS I) (Hurler Syndrome )
* The report reviews pipeline therapeutics for Mucopolysaccharidosis I (MPS I) (Hurler Syndrome ) by companies and universities/research institutes based on information derived from company and industry-specific sources
* The report reviews key players involved in the therapeutics development for Mucopolysaccharidosis I (MPS I) (Hurler Syndrome ) and enlists all their major and minor projects
* A review of the Mucopolysaccharidosis I (MPS I) (Hurler Syndrome) products under development by companies and universities/research institutes based on information derived from company and industry-specific sources
(12) Mucopolysaccharidosis is caused by the deficiency of one of those enzymes responsible for glycosaminoglycan degradation, resulting in subsequent GAG accumulation in several tissues leading to various pathological features including mental retardation, coarse face, short stature, dysostosis multiplex, corneal clouding, hepatosplenomegaly, and cardiac involvement.

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