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Hurler syndrome

Pronunciation: hur'ler

Definition: mucopolysaccharidosis in which there are deficiency of a-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 a-l-iduronidase gene (IDUA) on 4p.

Synonym(s): Hurler disease, lipochondrodystrophy, mucopolysaccharidosis type IH, Pfaundler-Hurler syndrome

[Gertrud Hurler]

See Also: mucolipidosis

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.