mucopolysaccharidosis screening
Pronunciation: /ˌmjuːkoʊˌpɒlɪˌsækəraɪˈdoʊsɪs/
Also written as: MPS — Mucopolysaccharidosis
Enzymatic testing in dried blood spots to detect lysosomal storage disorders affecting glycosaminoglycan metabolism.
Full Definition
Mucopolysaccharidosis (MPS) screening encompasses testing for several lysosomal storage disorders characterized by deficiencies in enzymes that break down glycosaminoglycans (GAGs). Common forms included in newborn screening are MPS I (Hurler syndrome) detected by α-L-iduronidase deficiency, and MPS II (Hunter syndrome) detected by iduronate-2-sulfatase deficiency. The screening uses fluorometric enzyme activity assays performed on dried blood spots, measuring specific enzyme activities using artificial substrates. Early detection is critical because enzyme replacement therapies and stem cell transplantation are most effective when initiated before irreversible organ damage occurs, particularly affecting the heart, brain, and skeletal system.
Usage
Usage note: Often abbreviated as MPS in clinical contexts; plural form is mucopolysaccharidoses.
In Context
- "Mucopolysaccharidosis screening showed reduced α-L-iduronidase activity requiring confirmatory testing." — Laboratory report
- "The state expanded mucopolysaccharidosis screening to include both MPS I and MPS II detection." — Public health announcement