Hurler's syndrome

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Noun

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

dysostosis multiplex, gargoylism, Hurler's disease, 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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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.

Magenta Therapeutics Presents New Data from Phase 2 Study of MGTA-456 Cell Therapy in Patients with Inherited Metabolic Disorders

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.

No parent should be told that their child is dying ... now our Isabella has a chance; COUPLE OFFER THEIR THANKS AFTER CHARITY HELPS FIND A DONOR FOR THEIR DAUGHTER

Hurler's syndrome is a rare lysosomal storage disorder having incidence of around 1:1,00,000 births.

Obstructed umbilical hernia in a patient of Hurler's syndrome--a case report

Sheriff Court heard two of her three children, Cody and McKayla, suffer from Hurler's syndrome.

Mum of dying kids faces jail for PS38,000 fake taxis scam; Drivers' signatures forged in NHS travel expenses swindle

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.

Stem cells hold hope for 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.

Brave Thomas has met the stars...but it's his smile that shines brightest; Family celebrates 10 years since his lifesaving op

This can be distinguished from the ovoid vertebral bodies of Hurler's syndrome and other mucopolysaccharidoses.

Roentgenographic diagnosis of mucopolysaccharidosis with particular reference to Morquio syndrome

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.

Inborn errors

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.

Blood cells successfully reprogrammed

The tot suffers from Hurler's Syndrome, which means he was born with a missing enzyme.

Tot thinks Charles is Daddy

The Royals also met three-year- old Oliver Flower, who suffers from Hurler's Syndrome, which means he was born with a missing enzyme.

Prince recalls 'happy times' at Great Ormond Street

Cord-blood transplants from unrelated donors in patients with Hurler's syndrome. N Engl J Med 2004;350:1960-9.