Skip to Content

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

Disclaimer: This site is designed to offer information for general educational purposes only. The health information furnished on this site and the interactive responses are not intended to be professional advice and are not intended to replace personal consultation with a qualified physician, pharmacist, or other healthcare professional. You must always seek the advice of a professional for questions related to a disease, disease symptoms, and appropriate therapeutic treatments.
© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
Hide