Clinical presentation and diagnosis of mucopolysaccharidoses.
Publication/Presentation Date
9-1-2018
Abstract
Mucopolysaccharidoses (MPS) are estimated to affect1 in 25,000 live births although specific rates vary between the ethnic origin and country. MPS are a group of lysosomal storage disorders, which cause the buildup of GAG(s) due to insufficient or absent GAG-degrading enzymes. With seven types of MPS disorders and eleven subtypes, the MPS family presents unique challenges for early clinical diagnosis due to the molecular and clinical heterogeneity between groups and patients. Novel methods of early identification, particularly newborn screening through mass spectrometry, can change the flow of diagnosis, allowing enzyme and GAG quantification before the presentation of clinical symptoms improving outcomes. Genetic testing of patients and their families can also be conducted preemptively. This testing enables families to make informed decisions about family planning, leading to prenatal diagnosis. In this review, we discuss the clinical symptoms of each MPS type as they initially appear in patients, biochemical and molecular diagnostic methods, and the future of newborn screening for this group of disorders.
Volume
125
Issue
1-2
First Page
4
Last Page
17
ISSN
1096-7206
Published In/Presented At
Stapleton, M., Arunkumar, N., Kubaski, F., Mason, R. W., Tadao, O., & Tomatsu, S. (2018). Clinical presentation and diagnosis of mucopolysaccharidoses. Molecular genetics and metabolism, 125(1-2), 4–17. https://doi.org/10.1016/j.ymgme.2018.01.003
Disciplines
Medicine and Health Sciences
PubMedID
30057281
Department(s)
Fellows and Residents
Document Type
Article