Definitions for hurler's disease
hurler's dis·ease

Princeton's WordNetRate this definition:0.0 / 0 votes

1. Hurler's syndrome, Hurler's disease, gargoylism, dysostosis multiplex, lipochondrodystrophynoun

   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

WikipediaRate this definition:0.0 / 0 votes

1. hurler's disease

   Hurler syndrome, also known as mucopolysaccharidosis Type IH (MPS-IH), Hurler's disease, and formerly gargoylism, is a genetic disorder that results in the buildup of large sugar molecules called glycosaminoglycans (GAGs) in lysosomes. The inability to break down these molecules results in a wide variety of symptoms caused by damage to several different organ systems, including but not limited to the nervous system, skeletal system, eyes, and heart. The underlying mechanism is a deficiency of alpha-L iduronidase, an enzyme responsible for breaking down GAGs.: 544  Without this enzyme, a buildup of dermatan sulfate and heparan sulfate occurs in the body. Symptoms appear during childhood, and early death usually occurs. Other, less severe forms of MPS Type I include Hurler-Scheie Syndrome (MPS-IHS) and Scheie Syndrome (MPS-IS). Hurler syndrome is classified as a lysosomal storage disease. It is clinically related to Hunter syndrome (MPS II); however, Hunter syndrome is X-linked, while Hurler syndrome is autosomal recessive.

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1. hurler's disease

   Hurler's disease, or as it's medically known, Hurler's syndrome, is a rare, inherited disease of metabolism where the person cannot break down long chains of sugar molecules called glycosaminoglycans. The name “Hurler” comes from Gertrud Hurler, the German doctor who first described the disease. It falls under a group of conditions known as mucopolysaccharidoses, specifically Type 1 (MPS1). Hurler's syndrome is characterized by severe progressive physical and mental deterioration and changes in the child's overall appearance, caused by a deficiency of the lysosomal enzyme alpha-L-iduronidase. In most cases, children with Hurler's syndrome die by the age of 6 to 10, often from infection or complications linked to the heart and respiratory system. Symptoms of the disease often appear in early childhood and can include: coarse, rough facial features, vision and hearing problems, physical disfigurement, heart abnormalities, enlarged liver and spleen, and cognitive impairment. As of now, there's no specific cure for Hurler's syndrome, but treatments such as bone marrow transplant, enzyme replacement therapy, and surgery can help manage some of the symptoms.

Matched Categories

1. • Monogenic Disorder
   • Mucopolysaccharidosis

How to pronounce hurler's disease?

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Numerology

1. Chaldean Numerology

   The numerical value of hurler's disease in Chaldean Numerology is: 3

2. Pythagorean Numerology

   The numerical value of hurler's disease in Pythagorean Numerology is: 1

References

1. ^ Princeton's WordNet
   http://wordnetweb.princeton.edu/perl/webwn?s=hurler's disease
2. ^ Wikipedia
   https://en.wikipedia.org/wiki/Hurler'S_Disease
3. ^ ChatGPT
   https://chat.openai.com