Hurler syndrome

(redirected from Hurler disease)

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 ?
Aiden was born with Hurler disease, a rare condition that attacks the nervous system, and his family were told it was terminal.
Contract notice: Supplies of the drug on the composition of laronidasum - medication program - treatment of hurler disease.
A recent report of IT-ERT in a single patient with Hurler disease mentioned the analysis of total GAGs in CSF using a colorimetric method that required several milliliters of CSF (9) and did not clearly discriminate the patient from normal controls.
Extensive Mongolian spot related to Hurler disease (Abstract).
Four-year-old Hurler Disease sufferer Robyn Watterson inspired donors and CHAS now have the money - but no planning permission - to build it.
The disease, called Hurler disease, Sheie syndrome, or Hurler-Sheie Syndrome, depending on severity, affects many body systems and can lead to organ damage.
Robyn has Hurler Disease, a rare metabolic disorder.
Robyn suffers from incurable Hurler disease - an enzyme deficiency which leaves her in chronic pain and stunts her development.
Robyn has Hurler Disease, a merciless condition that means she is missing a vital emzyne that breaks down waste in her body, leaving it to build up in her cells.
That means fewer precious visits for children like little Robyn Watterson, terminally ill with Hurler Disease.
He had been born with Hurler Disease, a rare genetic condition that ravages the brain and the bones.