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

Clinical Characterization of Mucolipidoses II and III: A Multicenter Study

Taciane Alegra  1 , Fernanda Sperb-Ludwig  1   2 , Nicole Ruas Guarany  3 , Erlane M Ribeiro  4 , Charles M Lourenço  5 , Chong Ae Kim  6 , Eugênia R Valadares  7 , Marcial Francis Galera  8 , Angelina X Acosta  9 , Dafne Dain Gandelman Horovitz  10 , Ida Vanessa Doederlein Schwartz  1   11   12
Affiliations

Clinical Characterization of Mucolipidoses II and III: A Multicenter Study

Taciane Alegra et al. J Pediatr Genet. 2019 Dec.

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.

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Conflict of interest statement

Conflict of Interest None declared.

Figures

Fig. 1
Fig. 1
Phenotypic spectrum of patients with GlcNAc-phosphotransferase-deficient activity (MLs II and III). ( A–C ) ML type II (2-year-old patient), protruding abdomen, thoracolumbar hump, typical face, gingival hyperplasia, and joint contractures may be observed. ML, mucolipidosis.
Fig. 2
Fig. 2
( A–C ) ML type III α/beta (29-year-old patient), pectus carinatum, articular contracture in knees, shoulders, and discreet hands; infiltrated face, but with little intensity. ML, mucolipidosis.
Fig. 3
Fig. 3
( A–C ) ML type III gamma (41-year-old patient), joint contractures, elbows, shoulders, and hands; this patient has bilateral hip prosthesis. ML, mucolipidosis.
See this image and copyright information in PMC

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