mucopolysaccharidosis (Meaning)
mucopolysaccharidosis (n)
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
Synonyms & Antonyms of mucopolysaccharidosis
No Synonyms and anytonyms found
mucopolysaccharidosis Sentence Examples
- Mucopolysaccharidosis (MPS) is a group of rare metabolic disorders characterized by the accumulation of glycosaminoglycans (GAGs) in various tissues.
- MPS is caused by genetic defects in enzymes involved in GAG degradation.
- Symptoms of MPS vary depending on the specific type, but typically include skeletal deformities, organ enlargement, and developmental delays.
- Diagnosis of MPS is based on clinical symptoms, enzyme assays, and genetic testing.
- Treatment for MPS includes enzyme replacement therapy, hematopoietic stem cell transplantation, and symptomatic management.
- MPS Type I (Hurler syndrome) is the most common and severe type, characterized by severe skeletal and organ involvement.
- MPS Type II (Hunter syndrome) is an X-linked disorder affecting males and causes moderate to severe cognitive impairment.
- MPS Type III (Sanfilippo syndrome) is characterized by progressive cognitive decline and behavioral problems.
- MPS Type VI (Maroteaux-Lamy syndrome) causes skeletal deformities and mild to moderate cognitive impairment.
- Research into new therapies for MPS, including gene therapy and enzyme augmentation, is ongoing.
FAQs About the word mucopolysaccharidosis
any of a group of genetic disorders involving a defect in the metabolism of mucopolysaccharides resulting in greater than normal levels of mucopolysaccharides i
No synonyms found.
No antonyms found.
Mucopolysaccharidosis (MPS) is a group of rare metabolic disorders characterized by the accumulation of glycosaminoglycans (GAGs) in various tissues.
MPS is caused by genetic defects in enzymes involved in GAG degradation.
Symptoms of MPS vary depending on the specific type, but typically include skeletal deformities, organ enlargement, and developmental delays.
Diagnosis of MPS is based on clinical symptoms, enzyme assays, and genetic testing.
