gargoylism

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Related to Hurler syndrome: Hunter syndrome

gargoylism

[′gär·gȯi‚liz·əm]
(medicine)
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References in periodicals archive ?
for AGT-181, a novel, investigational enzyme replacement therapy for the treatment of both somatic and cognitive symptoms in patients with Hurler syndrome, also known as mucopolysaccharidosis type I (MPS I), the company said.
Biotechnology company ArmaGen Inc disclosed on Thursday that it has received the US Food and Drug Administration's (FDA) Fast Track designation for AGT-181 for the treatment of both somatic and cognitive symptoms in patients with Hurler syndrome (also known as mucopolysaccharidosis type I, or MPS I).
For example, curvilinear and granular osmiophilic deposits found in Batten disease and the membrane-bound vacuoles containing fibrillogranular material in Hurler syndrome have a completely different aspect from Fabry myelin bodies.
The outlook for children with Hurler Syndrome is grim: they suffer from organ dysfunction particularly of the heart (valve problems and narrowed arteries), bones (misshapen spine and joints), lungs (frequent infection, airway blockages, sleep apnea) and in some cases of the brain (developmental abnormalities, learning difficulties and intellectual disabilities).
Ogilvie, Genu valgum deformity in Hurler syndrome after hematopoietic stem cell transplantation: correction by surgical intervention, J PediatrOrthop 19(1999), 270-274.
Hurler syndrome patients have marked cognitive delay, coarse facial features, corneal clouding, hearing impairment, ear-nose-throat infections (5), cardiac disease and respiratory complications are common, hepatosplenomegaly, umbilical and inguinal hernias, restricted joint mobility and orthopedic defects.
Among these are Gaucher Disease, Maple Syrup Urine Disease, Pompe Disease, Galactosemia, Phenylketonuria, Methylmalonic Acidemia, Urea Cycle Defects, Hurler Syndrome, Hunter Syndrome, Prader-Willi Syndrome, Edward Syndrome, and Patau Syndrome.
MPS I is one of the most common lysosomal storage diseases to affect the central nervous system, which in severe form can become Hurler syndrome.
Mum-of-five Michelle Rodden, 39, said she had been forced to leave her 19-year-old ADHD suffering son in her house, while moving to the council-run building with 16-year-old pregnant daughter Stacey, 14-year-old Stephanie, Leighton, nine, and seven-year-old Demi-Leigh, who suffers from Hurler syndrome.
2-5) A search of Medline from 1966 to the present with the search words Hunter, mucopolysaccharidosis, thickening, cervical, and/or cord did not yield reports of cervical cord thickening in patients with Hurler syndrome.
Hurler syndrome (OMIM 607014) (1) and Hunter disease (OMIM 309900) (2, 3), also referred to as mucopolysaccharidoses types I and II (MPSIH and MPS II), [4] are caused by deficiency of the enzymes [alpha]-L-iduronidase (EC 3.