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 ?
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.
Besides Hurler syndrome, Pan said the study will have positive implications in the treatment of many other lysosomal storage diseases, which affect different parts of the body, depending on the specific enzyme deficiency.
Hurler syndrome, also known as mucopolysaccharidosis, occurs in infancy and causes progressive physical and mental disability.
Commercially available treatments for Hurler syndrome do not penetrate the blood-brain barrier (BBB), and therefore do not address the severe and progressive neurological complications of the disease.
There are usually only around 30 children at one time suffering from Hurler Syndrome and at Warrington hospital, where Adam was diagnosed, they say this is only the third case they have seen in 30 years.
These forward-looking statements include, without limitation, the potential of ZFNs to treat a broad range of human monogenic diseases, including beta-thalassemia, sickle cell disease, hemophilia A and B, Hurler syndrome, Hunter syndrome, Gaucher disease and other LSDs, research and development of novel ZFP TFs and ZFNs, therapeutic applications of Sangamo's ZFP technology platform, including IVPRP, in indications such as hemophilia and LSDs, the anticipated timing and the number of IND filings, the collaboration with Biogen and initiation and completion of clinical trials.
Bone marrow transplantation for globoid cell leukodystrophy, adrenoeukodystrophy, metachromatic leukodystrophy, and Hurler syndrome.
The most severe form of MPS I, Hurler syndrome, is a rare, hereditary lysosomal storage disorder that affects the brain and spinal cord in children, resulting in a wide range of debilitating symptoms.
Deficiencies of [alpha]-iduronidase activities are associated with a variety of clinical phenotypes, including Hurler syndrome, Scheie syndrome, and Hurler-Scheie phenotype (25); although rare, deficiencies of [beta]-mannosidase are also associated with a spectrum of clinical presentations and natural histories (26).
Many of these mutations are associated with disorders that cause mental retardation in children, including Hurler syndrome, Fragile X syndrome, Tay-Sachs disease, and Canavan disease.
Twelve patients were transplanted with cord blood stem cells of a sibling for a range of inherited conditions including, thalassemia, sickle cell anemia, Fanconi anemia and Hurler syndrome.
Bone marrow transplantation for globoid cell leukodystrophy, adrenoleukodystrophy, metachromatic leukodystrophy, and Hurler syndrome.