mucopolysaccharidosis

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Noun1.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
dysostosis multiplex, gargoylism, Hurler's disease, Hurler's syndrome, lipochondrodystrophy - 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
References in periodicals archive ?
Waiting for him at journey's end was four-year-niece Isla who suffers from the rare Mucopolysaccharide Disease (MPS), and who provided the focus for Ryan to raise more than PS4,000 for the MPS Society.
She is thought to be the only person in the North East to suffer from mucopolysaccharide disease, which eventually destroys every organ by stopping it breaking down sugars properly.
There is no cure for this mucopolysaccharide disease, only palliative pain relief.
Friday's Jeans for Genes day was organised by five charities, the Great Ormond Street Hospital Children's Charity, the Cystic Fibrosis Trust, the Primary Immunodeficiency Association, the Society for Mucopolysaccharide Disease and the Chronic Granulomatous Disorder Research Trust.
Sissi's two children Maggie (5) and Joe (6) both have this mucopolysaccharide disease variant that impacts on just about everything 5 and 6 year olds need to become 9 and 10 year olds.
Mucopolysaccharide Disease is extremely rare, so when Ryan's niece Isla was diagnosed last September, just four days after her fourth birthday, it sent the entire family into shock.