Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age

• DOI: 10.1007/8904_2013_289
• Publication Date: 2014-02-10T10:45:32Z
• Authors: Christina Lampe; Andrea Atherton; Barbara K. Burton; Maria Descartes; Roberto Giugliani; Dafne D. G. Horovitz; Sandra O. Kyosen; Tatiana S. P. C. ...; Ana Maria Martins; Nancy J. Mendelsohn; Joseph Muenzer; Laurie D. Smith
• Keywords: Mucopolysaccharidosis; Hunter syndrome; Mucopolysaccharidosis type II; Medical record

Mucopolysaccharidosis (MPS) II, or Hunter syndrome, is a lysosomal storage disease characterized by multi-systemic involvement and progressive clinical course. Enzyme replacement therapy with idursulfase has been approved in more than 50 countries worldwide; however, safety efficacy data from studies are currently only available for patients 1.4 years of age older. Sibling case infants MPS I, VI who initiated ERT the first weeks months life have reported no new concerns favorable course sibling treated infancy later-treated sibling. Here we describe our experiences series eight II whom treatment was at under 1 year age. The majority were diagnosed because family history disease. All displayed abnormalities consistent diagnosis. youngest start 10 days oldest 6.5 months, duration varying between 6 5.5 years. No observed, none experienced an infusion-related reaction. showed improvements and/or stabilization some somatic manifestations while on treatment. In cases, caregivers made comparisons other affected members that early-treated less severe course, although lack medical records many precluded rigorous comparison.