Mucopolysaccharidosis (Noun)
Meaning
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.
Classification
Nouns denoting natural processes.
Examples
- Hurler syndrome is a severe form of mucopolysaccharidosis that affects about 1 in 100,000 babies born worldwide.
- The researchers studied the effects of mucopolysaccharidosis on cognitive function in a group of 50 patients.
- Mucopolysaccharidosis type I, also known as Hurler syndrome, is caused by a deficiency of the enzyme alpha-L-iduronidase.
- The boy was diagnosed with mucopolysaccharidosis at the age of two and underwent enzyme replacement therapy to manage his symptoms.
- Early diagnosis and treatment of mucopolysaccharidosis can significantly improve the quality of life for patients with the disorder.
Hypernyms
- Inherited Disorder
- Hereditary Disease
- Inherited Disease
- Genetic Abnormality
- Genetic Defect
- Congenital Disease
- Hereditary Condition
- Genetic Disorder