Clinical Characterization of Mucolipidoses II and III: A Multicenter Study

Taciane Alegra; Fernanda Sperb-Ludwig; Nicole Ruas Guarany; Erlane M Ribeiro; Charles M Lourenço; Chong Ae Kim; Eugênia R Valadares; Marcial Francis Galera; Angelina X Acosta; Dafne Dain Gandelman Horovitz; Ida Vanessa Doederlein Schwartz

doi:10.1055/s-0039-1697605

Clinical Characterization of Mucolipidoses II and III: A Multicenter Study

J Pediatr Genet. 2019 Dec;8(4):198-204. doi: 10.1055/s-0039-1697605. Epub 2019 Sep 24.

Affiliations

¹ Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
² BRAIN Laboratory, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
³ Occupational Therapy Faculty, Federal University of Pelotas, Pelotas, Brazil.
⁴ Hospital Infantil Albert Sabin, Fortaleza, Brazil.
⁵ Ribeirão Preto Clinics Hospital, Universidade de São Paulo, Ribeirão Preto, Brazil.
⁶ Genetics Unit, Instituto da Criança, School of Medicine, Universidade de São Paulo, São Paulo, Brazil.
⁷ Department of Complementary Propaedeutics, Faculty of Medicine, Federal University of Minas Gerais (UFMG), Belo Horizonte, Brazil.
⁸ Department of Pediatrics, School of Medicine, Federal University of Mato Grosso, Cuiabá, Brazil.
⁹ Faculdade de Medicina, Departamento de Pediatria, Setor de Genética, Universidade Federal da Bahia, Salvador, Brazil.
¹⁰ Department of Genetics, Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira, Fiocruz, Rio de Janeiro, Brazil.
¹¹ Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
¹² Department of Genetics, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.

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.

Keywords: mucolipidosis II; mucolipidosis III gamma; mucolipidosis III α/beta.

Grants and funding

Funding Financial support for this project was provided by FIPE-HCPA, FAPERGS, CAPES, CNPq (Brazil), and the UFRGS Graduate Program in Genetics and Molecular Biology.