J Pediatr Genet 2019; 08(04): 198-204
DOI: 10.1055/s-0039-1697605
Original Article
Georg Thieme Verlag KG Stuttgart · New York

Clinical Characterization of Mucolipidoses II and III: A Multicenter Study

Taciane Alegra
1  Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil
,
Fernanda Sperb-Ludwig
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
,
Nicole Ruas Guarany
3  Occupational Therapy Faculty, Federal University of Pelotas, Pelotas, Brazil
,
Erlane M. Ribeiro
4  Hospital Infantil Albert Sabin, Fortaleza, Brazil
,
Charles M. Lourenço
5  Ribeirão Preto Clinics Hospital, Universidade de São Paulo, Ribeirão Preto, Brazil
,
Chong Ae Kim
6  Genetics Unit, Instituto da Criança, School of Medicine, Universidade de São Paulo, São Paulo, Brazil
,
Eugênia R. Valadares
7  Department of Complementary Propaedeutics, Faculty of Medicine, Federal University of Minas Gerais (UFMG), Belo Horizonte, Brazil
,
Marcial Francis Galera
8  Department of Pediatrics, School of Medicine, Federal University of Mato Grosso, Cuiabá, Brazil
,
Angelina X. Acosta
9  Faculdade de Medicina, Departamento de Pediatria, Setor de Genética, Universidade Federal da Bahia, Salvador, Brazil
,
Dafne Dain Gandelman Horovitz
10  Department of Genetics, Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira, Fiocruz, Rio de Janeiro, Brazil
,
Ida Vanessa Doederlein Schwartz
1  Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, 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
› Author Affiliations
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.
Further Information

Publication History

19 March 2019

15 August 2019

Publication Date:
24 September 2019 (online)

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.

Ethical Approval

This study was approved by the Research Ethics Committee of Hospital de Clínicas de Porto Alegre (project no. 14–0257), and all patients provided written informed consent for participation.