Body Composition of Individuals with Mucopolysaccharidosis

Marcelino Cristiano A

doi:10.16966/2380-548x.101

Abstract

Objective: To describe body composition of individuals with mucopolysaccharidosis (MPS). Methods: A cross-sectional study was carried on with a convenience sample of MPS individuals of both sexes, five years of age or older. Exclusion criteria: physical deformity, neurological problems or other associated syndrome, precluding full measure’s accomplishment. Body composition was estimated by anthropometric method, according to international standards. Accomplished measurements of skinfold, body girth, bone diameters, total body mass and stature were made. Body mass index (BMI), body fat percent (BF%) and body mass were calculated. Body composition was also evaluated through Dual-energy X-ray Absorptiometry (DXA). Results: Twenty-three individuals were identified; three were excluded (cognitive deficit) and five losses occurred. Fifteen individuals were evaluated (average age = 12.1 ± 7.7 years); three MPS I, five MPS II, one MPS IV and six MPS VI. For DXA, eight were included (average age = 14.1 ± 9.8 years), six common to the anthropometric assessment. BMI average: 19.8 ± 3.8 kg/m2; BF% average: 13.9 ± 5.1%. Short stature was present in 76.9%, obesity in 25.0%, macrocephaly in 26.6%; osteoporosis in 25.0%. Perimeters’ measures increased with the increasing of age. Bone lengths were not always shortened and there was no pattern related to age and MPS type. No significant differences were observed between anthropometry and DXA. The results varied in the same type of MPS and in the same age group. Conclusions: Physical parameters were in agreement with literature, as short stature and macrocephaly. Measurements’ variations between different MPS types and among individuals of the same type strengthen the heterogeneity of this disease.

Highlights

Mucopolysaccharidosis (MPS) is a rare and heterogeneous genetic disease, caused by deficiency or absence of lysosomal enzymes involved in the degradation of glycosaminoglycans
Phenotypic heterogeneity, variability and severity of clinical manifestations can be distinguished from MPS within and among types [3]
The knowledge of variables related to the growth and development of children and adolescents, such as height, body mass, body fat and muscle mass, is extremely important as these, among others, are health indicators of such populations

Summary

Introduction

Mucopolysaccharidosis (MPS) is a rare and heterogeneous genetic disease, caused by deficiency or absence of lysosomal enzymes involved in the degradation of glycosaminoglycans. Abnormal and progressive accumulation occurs in many tissues, giving a multisystemic characteristic of this disease [1]. Neurological involvement is associated with more severe forms of the disease and may not occur in almost all types [2]. Phenotypic heterogeneity, variability and severity of clinical manifestations can be distinguished from MPS within and among types [3]. The incidence of MPS varies from 1.9 to 4.5 in 100,000 live births [4,5]. In Brazil, a study conducted in the state of Pará identified the incidence of MPS I as 1:1.440,000 live births [6]. MPS Brazil Network [Rede MPS Brasil] initiative that enhances the diagnosis and treatment of MPS in Brazil, identified 1,000 patients with MPS until December, 2012 [7]

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