Etymed
mucopolysaccharidosis
Definition
A group of inherited metabolic disorders characterized by the deficiency of specific enzymes needed to break down complex sugar molecules (polysaccharides), leading to the accumulation of these substances in various tissues and organs, often resulting in mucus-like substances in the body
Clinical context
A 5-year-old boy presents with coarse facial features, hepatosplenomegaly, and developmental delay. Laboratory studies reveal elevated levels of glycosaminoglycans in urine and skin fibroblasts. The patient has multiple organ involvement including skeletal abnormalities and corneal clouding. Genetic testing confirms a deficiency in specific lysosomal enzymes required for glycosaminoglycan degradation.
Mnemonic
MUCOpolysaccharides accumulate in MPS patients, causing mucous buildup and multiple system involvement
These morphemes also unlock…
- muc/o — mucus
- polysaccharid/o — many saccharides
- -osis — abnormal condition