Hurler's disease


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Noun1.Hurler's disease - hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolism; characterized by severe abnormalities in development of skeletal cartilage and bone and mental retardation
monogenic disease, monogenic disorder - an inherited disease controlled by a single pair of genes
mucopolysaccharidosis - any of a group of genetic disorders involving a defect in the metabolism of mucopolysaccharides resulting in greater than normal levels of mucopolysaccharides in tissues
References in periodicals archive ?
Hunter's Disease and Hurler's Disease Named as Sangamo's First Proprietary Programs in Lysosomal Storage Disorders
Experts said the toddler was unlikely to survive to his first birthday without a bone marrow transplant after he was born with Hurler's disease, a rare enzyme deficiency which causes severe disabilities.
United States Patent 6,335,011 covers methods for delivering genes via AAV to muscle tissue to treat any of the lysosomal storage diseases, including Gaucher's Disease and Hurler's Disease.
He has a rare illness called Hurler's Disease which attacks vital organs.
Jackie has remained with Jordan, who has Hurler's disease, throughout his hospital stay, sleeping on a camp bed in his room at night.