gargoylism
(redirected from Hurler syndrome)

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gargoylism

an abnormal physical condition characterized by extensive structural defects of the skeleton and by gross mental deficiency.

See also: Anatomy, Bones, Disease and Illness

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Noun

gargoylism - 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

dysostosis multiplex, Hurler's disease, Hurler's syndrome, lipochondrodystrophy

monogenic disease, monogenic disorder - an inherited disease controlled by a single pair of genes

mucopolysaccharidosis - any of a group of genetic disorders involving a defect in the metabolism of mucopolysaccharides resulting in greater than normal levels of mucopolysaccharides in tissues

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anatomy Bones Disease and Illness dysostosis multiplex Hurler's disease Hurler's syndrome lipochondrodystrophy monogenic disease monogenic disorder mucopolysaccharidosis			The lysosomes in the cells of children with Hurler syndrome do not have a vital enzyme called IDUA (/a-/L-idunronidase), which causes their cells to accumulate too much of a class of biochemical known as mucopolysaccharides, in this instance dermatan sulfate and heparin sulfate. Blood cells successfully reprogrammed by Asian News International He was diagnosed with MPS 1 - Hurler Syndrome at a few months old and doctors said it was terminal without a bone marrow transplant. On board to treat brave boy; FAMILY: Bus dream come true by Birmingham Mail (England) In January 2003, Jayne and Anthony were told Thomas had a life-threatening condition called Hurler syndrome. I watch my little boy and think - what an inspiration he is.. by Evening Gazette (Middlesbrough, England)			Huon pine Hupa Hupeh Hupei huppah Hurban Hurd Hurden hurdies hurdle hurdle race hurdle rate hurdler hurdles Hurdlework hurdling hurds hurdy gurdy hurdy-gurdy Hurkaru hurkle hurl Hurlbat Hurlbone Hurler Hurler syndrome Hurler's disease Hurler's syndrome hurley hurling Hurlwind Hurly hurly burly hurly-burly Hurok Huron Huron-Iroquous Huronian Hurons hurple Hurr hurrah Hurrah's nest hurray hurricane Hurricane bird hurricane deck hurricane lamp hurricane lantern hurricane roof hurricane-force			Hurkisondas Nurrotumdas Hospital and Research Centre Hurkisondas Nurrotumdas Medical Research Society hurkle hurl hurl hurl hurl hurl hurl hurl around hurl at hurl away hurl defiance at hurl down Hurl Gate Hurl Gate hurl headlong hurl insults hurl into hurl out Hurlbat Hurlbone hurled hurled hurled hurler hurler hurler Hurler (roller coaster) Hurler disease Hurler syndrome Hurler's disease Hurler's disease Hurler's syndrome Hurler's syndrome Hurler's syndrome Hurler-Scheie Syndrome hurlers Hurley Hurley International Hurley Medical Center Hurley Palmer Flatt Hurley, Patrick J Hurley, Patrick J. Hurley, Patrick Jay hurleys hurling hurling hurling hurling Hurling the Silver Ball hurloid facies hurls hurls hurls Hurlstone Agricultural High School Hurlwind Hurly hurly burly hurly-burlies hurly-burly

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gargoylism (redirected from Hurler syndrome)

gargoylism
(redirected from Hurler syndrome)