Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS)

Olaf Bodamer; Maurizio Scarpa; Christina Hung; Tom Pulles; Roberto Giugliani

doi:10.1016/j.ymgmr.2017.02.004

Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS)

Mol Genet Metab Rep. 2017 May 3:11:62-64. doi: 10.1016/j.ymgmr.2017.02.004. eCollection 2017 Jun.

Authors

Olaf Bodamer¹, Maurizio Scarpa^{2

3}, Christina Hung¹, Tom Pulles⁴, Roberto Giugliani⁵

Affiliations

¹ Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital/Harvard Medical School, Boston, MA, USA.
² Rare Disease Centre, Helios Dr. Horst Schmidt Clinic, Wiesbaden, Germany.
³ Department of Women's and Children's Health, University of Padova, Padova, Italy.
⁴ Shire, Zug, Switzerland.
⁵ Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Department of Genetics/UFRGS and INAGEMP, Porto Alegre, Brazil.

Abstract

There is a need to identify early disease markers to facilitate diagnosis of mucopolysaccharidosis type II (MPS II; Hunter syndrome). Mean birth weight and its association with disease severity was investigated in 609 patients enrolled in the Hunter Outcome Survey (HOS). This analysis indicated that birth weight is not an early marker of MPS II and is not associated with disease severity. It remains important to investigate the utility of other factors for early/pre-symptomatic diagnosis.

Keywords: ERT, enzyme replacement therapy; Growth; HOS, Hunter Outcome Survey; Hunter syndrome; Iduronate-2-sulfatase deficiency; Lysosomal storage disease; MPS II, mucopolysaccharidosis type II; SD, standard deviation.