Original Article

Journal of Inherited Metabolic Disease

, Volume 34, Issue 5, pp 1029-1037

First online:

Open Access This content is freely available online to anyone, anywhere at any time.

Clinical manifestations and treatment of mucopolysaccharidosis type I patients in Latin America as compared with the rest of the world

  • María Verónica Muñoz-RojasAffiliated withGenzyme do Brazil Email author 
  • , Luisa BayAffiliated withUnidad de Errores Congénitos del Metabolismo, Hospital Nacional de Pediatría J.P. Garrahan
  • , Luz SanchezAffiliated withPediatra y Neonatóloga, Hospital de Especialidades UMAE 25
  • , Marcel van KuijckAffiliated withRegistry & Compassionate Use Programs, Genzyme, Latin America Group
  • , Sandra OspinaAffiliated withFundación Universitaria de Ciencias de la Salud, Universidad del Rosario
  • , Juan Francisco CabelloAffiliated withNeurólogo Infantil. Programa de Formación Neuropediatria, Facultad de Medicina, Univerisad de ValparaisoLaboratorio de Genética y Enfermedades Metabólicas del Instituto de Nutrición y Tecnología de los Alimentos (INTA), Universidad de Chile
  • , Ana Maria MartinsAffiliated withCentro de Referência em Erros Inatos do Metabolismo, Universidade Federal de São Paulo

Abstract

Background

Mucopolysaccharidosis I (MPS I) comprises a spectrum of clinical manifestations and is divided into three phenotypes reflecting clinical severity: Hurler, Hurler-Scheie, and Scheie syndromes. There may be important variations in clinical manifestations of this genetic disease in patients residing in different regions of the world.

Methods

Using data from the MPS I Registry (as of September 2009), we evaluated patients from Latin America (n = 118) compared with patients from the rest of the world [ROW (n = 727)].

Results

Phenotype distribution differed among patients in Latin America compared to ROW (Hurler 31 vs. 62%, Hurler-Scheie 36 vs. 21%, Scheie 10 vs. 11%, and unknown 22 vs. 6%). The frequency of certain symptoms, such as cardiac valve abnormalities, sleep impairment, and joint contractures, also differed between Latin America and ROW for some phenotypes. Median age at MPS I diagnosis was earlier in the ROW than Latin America for all phenotypes, and age at first treatment for Hurler and Hurler-Scheie patients was also earlier in the ROW. Hurler patients in Latin America showed a gap of 3.1 years between median ages of diagnosis and first treatment compared to only 0.5 years in the ROW. Treatment allocation in Latin America compared to ROW was as follows: enzyme replacement therapy (ERT) only, 80 vs. 45%; hematopoietic stem cell transplantation (HSCT) only, 0.9 vs. 27%; both ERT and HSCT, 0 vs. 16%; and neither treatment, 19 vs. 13%.

Conclusion

These data highlight important differences in MPS I patients between Latin America and ROW in terms of phenotypic distribution, clinical manifestations, and treatment practices.