title: The live-birth prevalence of mucopolysaccharidoses in Estonia.
abstract: Previous studies on the prevalence of mucopolysaccharidoses (MPS) in different populations have shown considerable variations. There are, however, few data with regard to the prevalence of MPSs in Fenno-Ugric populations or in north-eastern Europe, except for a report about Scandinavian countries. A retrospective epidemiological study of MPSs in Estonia was undertaken, and live-birth prevalence of MPS patients born between 1985 and 2006 was estimated. The live-birth prevalence for all MPS subtypes was found to be 4.05 per 100,000 live births, which is consistent with most other European studies. MPS II had the highest calculated incidence, with 2.16 per 100,000 live births (4.2 per 100,000 male live births), forming 53% of all diagnosed MPS cases, and was twice as high as in other studied European populations. The second most common subtype was MPS IIIA, with a live-birth prevalence of 1.62 in 100,000 live births. With 0.27 out of 100,000 live births, MPS VI had the third-highest live-birth prevalence. No cases of MPS I were diagnosed in Estonia, making the prevalence of MPS I in Estonia much lower than in other European populations. MPSs are the third most frequent inborn error of metabolism in Estonia after phenylketonuria and galactosemia.
authors.affiliation: Institute of Chemistry, Faculty of Sciences, Tallinn University of Technology, Tallinn, Estonia. kyllikrabbi@gmail.com
authors.forename: Külliki
authors.initials: K
authors.lastname: Krabbi
authors.forename: Kairit
authors.initials: K
authors.lastname: Joost
authors.forename: Riina
authors.initials: R
authors.lastname: Zordania
authors.forename: Inga
authors.initials: I
authors.lastname: Talvik
authors.forename: Reet
authors.initials: R
authors.lastname: Rein
authors.forename: Jan G M
authors.initials: JG
authors.lastname: Huijmans
authors.forename: Frans V
authors.initials: FV
authors.lastname: Verheijen
authors.forename: Katrin
authors.initials: K
authors.lastname: Õunap
mesh_terms: D004957:Estonia / Q000453:epidemiology; D006801:Humans; D008297:Male; D009083:Mucopolysaccharidoses / Q000145:classification / Q000453:epidemiology*; D015995:Prevalence; D012189:Retrospective Studies