Definition of Hurler's disease

1. Noun. 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.




Medical Definition of Hurler's disease

1. Mucopolysaccharidosis in which there is a deficiency of alpha-l-iduronidase, an 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 hand, corneal clouding, hepatosplenomegaly, mental retardation, and gargoyle-like facies; autosomal recessive inheritance. See: mucolipidosis. Synonym: dysostosis multiplex, Hurler's disease, lipochondrodystrophy, Pfaundler-Hurler syndrome, type IH mucopolysaccharidosis. (05 Mar 2000)

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Lexicographical Neighbors of Hurler's Disease

Huntingdon willow
Huntingdonshire
Huntington
Huntington's chorea
Huntington's disease
Huntington chorea
Huntington disease
Hunts
Huntsville
Huocheng
Huoerguosi
Huon pine
Hupa
Hurghada
Hurler
Hurler's disease
Hurler's syndrome
Hurler-Scheie syndrome
Hurler syndrome
Hurok
Huron
Huronian
Hurrian
Hurrians
Hurricane
Hurst bougies
Hurthle cell
Hurthle cell adenoma
Hurthle cell carcinoma
Hurthle cell tumour

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