Research, diagnosis and education in inborn errors of metabolism in Colombia: 20 years’ experience from a reference center | Orphanet Journal of Rare Diseases | Full Text

Research, diagnosis and education in inborn errors of metabolism in Colombia: 20 years’ experience from a reference center | Orphanet Journal of Rare Diseases | Full Text

Orphanet Journal of Rare Diseases

Research, diagnosis and education in inborn errors of metabolism in Colombia: 20 years’ experience from a reference center

• Olga Y. Echeverri,
• Johana M. Guevara,
• Ángela J. Espejo-Mojica,
• Andrea Ardila,
• Ninna Pulido,
• Magda Reyes,
• Alexander Rodriguez-Lopez,
• Carlos J. Alméciga-DíazEmail authorView ORCID ID profile and
• Luis A. Barrera

Orphanet Journal of Rare Diseases201813:141

https://doi.org/10.1186/s13023-018-0879-2

©  The Author(s). 2018

• Received: 13 September 2017
• Accepted: 26 July 2018
• Published: 16 August 2018

Abstract

The use of specialized centers has been the main alternative for an appropriate diagnosis, management and follow up of patients affected by inborn errors of metabolism (IEM). These centers facilitate the training of different professionals, as well as the research at basic, translational and clinical levels. Nevertheless, few reports have described the experience of these centers and their local and/or global impact in the study of IEM. In this paper, we describe the experience of a Colombian reference center for the research, diagnosis, training and education on IEM. During the last 20 years, important advances have been achieved in the clinical knowledge of these disorders, as well as in the local availability of several diagnosis tests. Organic acidurias have been the most frequently detected diseases, followed by aminoacidopathies and peroxisomal disorders. Research efforts have been focused in the production of recombinant proteins in microorganisms towards the development of new enzyme replacement therapies, the design of gene therapy vectors and the use of bioinformatics tools for the understanding of IEM. In addition, this center has participated in the education and training of a large number professionals at different levels, which has contributed to increase the knowledge and divulgation of these disorders along the country. Noteworthy, in close collaboration with patient advocacy groups, we have participated in the discussion and construction of initiatives for the inclusion of diagnosis tests and treatments in the health system.

Keywords

• Inborn errors of metabolism
• Colombia
• Latin America
• Research
• Education
• Diagnosis
• Training
• Rare diseases