RT Journal Article
SR Electronic
T1 Ethical and economic considerations of rare diseases in ethnic minorities: the case of mucopolysaccharidosis VI in Colombia
JF Journal of Medical Ethics
JO J Med Ethics
FD BMJ Publishing Group Ltd and Institute of Medical Ethics
SP 699
OP 700
DO 10.1136/medethics-2011-100204
VO 38
IS 11
A1 Diego Rosselli
A1 Juan-David Rueda
A1 Martha Solano
YR 2012
UL http://jme.bmj.com/content/38/11/699.abstract
AB Mucopolysaccharidosis VI is an autosomal recessive lysosomal storage disorder associated with severe disability and premature death. The presence of a mucopolysaccharidosis-like disease in indigenous ethnic groups in Colombia can be inferred from archaeological findings. There are several indigenous patients with mucopolysaccharidosis VI currently receiving enzyme replacement therapy. We discuss the ethical and economic considerations, regarding both direct and indirect costs, of a high-cost orphan disease in a marginalised minority population in a developing country.