Hurler's syndrome


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Noun1.Hurler's syndrome - 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
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
References in periodicals archive ?
The ongoing Phase 2 study in inherited metabolic disorders aims to enroll 12 patients with cerebral adrenoleukodystrophy, metachromatic leukodystrophy or globoid cell leukodystrophy, and previously also enrolled patients with Hurler's syndrome.
Isabella Rose Ellis was diagnosed with a rare genetic disorder called Hurler's Syndrome at just 11 months old and her Southport parents, Emma and Joseph, were told she had a life expectancy of two.
Hurler's syndrome is a rare lysosomal storage disorder having incidence of around 1:1,00,000 births.
Sheriff Court heard two of her three children, Cody and McKayla, suffer from Hurler's syndrome.
ADELAIDE, Australia, November 6, 2013 -- Research using special adult stem cells offers hope for better treatments for the devastating genetic disease known as Hurler's syndrome.
Back in 2003 at the age of just one, Thomas was diagnosed with a genetic disorder called Hurler's Syndrome which, put very simply, includes an enzyme deficiency meaning the body can't break down certain sugars.
This can be distinguished from the ovoid vertebral bodies of Hurler's syndrome and other mucopolysaccharidoses.
After doing some research, and pouring over the book of syndromes we keep in our little library, we came to the clinical conclusion that James' features very much resembled those seen in children who carry the unfortunate diagnosis of Hurler's syndrome. This condition is in the broad category of "inborn errors of metabolism" where, generally speaking, an enzyme necessary for proper metabolism (of fats, proteins or carbohydrates) is congenitally absent, resulting in the buildup of substances that can have a profound effect on not only physical features, but also on normal mental development.
Researchers transplanted genetically modified hematopoietic stem cells into mice so that their developing red blood cells produce a critical lysosomal enzyme -preventing or reducing organ and central nervous system damage from the often-fatal genetic disorder Hurler's syndrome.
The tot suffers from Hurler's Syndrome, which means he was born with a missing enzyme.
The Royals also met three-year- old Oliver Flower, who suffers from Hurler's Syndrome, which means he was born with a missing enzyme.
Cord-blood transplants from unrelated donors in patients with Hurler's syndrome. N Engl J Med 2004;350:1960-9.