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 ?
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.
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.
Cord blood Umbilical cord blood harvested at birth proved it could boost survival when injected into people with Hurler's syndrome (165: 293) and into leukemia patients who do not have matching bone marrow donors (166: 339).
Little Tomas Connors was diagnosed with Hurler's Syndrome - a devastating condition attacking the heart, brain, liver, spleen, bones and face - at birth.