| Literature DB >> 31687257 |
Taciane Alegra1, Fernanda Sperb-Ludwig1,2, Nicole Ruas Guarany3, Erlane M Ribeiro4, Charles M Lourenço5, Chong Ae Kim6, Eugênia R Valadares7, Marcial Francis Galera8, Angelina X Acosta9, Dafne Dain Gandelman Horovitz10, Ida Vanessa Doederlein Schwartz1,11,12.
Abstract
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. © Thieme Medical Publishers.Entities:
Keywords: mucolipidosis II; mucolipidosis III gamma; mucolipidosis III α/beta
Year: 2019 PMID： 31687257 PMCID： PMC6824887 DOI： 10.1055/s-0039-1697605
Source DB: PubMed Journal: J Pediatr Genet ISSN： 2146-460X