Open AccessClinical Characterization of Mucolipidoses II and III: A Multicenter Study
Author(s) -
Taciane Alegra,
Fernanda SperbLudwig,
Nicole Ruas Guarany,
Erlane Marques Ribeiro,
Charles Marques Lourenço,
Chong Kim,
Eugênia Ribeiro Valadares,
Marcial Francis Galera,
Angelina Xavier Acosta,
Dafne Dain Gandelman Horovitz,
Ida Vanessa Döederlein Schwartz
Publication year - 2019
Publication title -
journal of pediatric genetics
Language(s) - English
Resource type - Journals
eISSN - 2146-4596
pISSN - 2146-460X
DOI - 10.1055/s-0039-1697605
Subject(s) - medicine , gastroenterology , pediatrics
Mucolipidoses (MLs) II and III are rare lysosomal diseases caused by deficiency of GlcNAc-1-phosphotransferase, and clinical manifestations are multisystemic. Clinical and demographic data from 1983 to 2013 were obtained retrospectively. Twenty-seven patients were included (ML II = 15, ML III α/beta = 9, ML III gamma = 3). The median age at diagnosis was 2.7 years. The predominant clinical presentations were skeletal symptoms. The ML II patients showed physical and cognitive impairment, while the ML III α/beta patients have more somatic abnormalities and usually were delayed in early development as compared with ML III gamma patients. This is the most comprehensive study exploring characteristics of Brazilian patients with MLs II and III.