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Anthropometric characteristics of four Polish children with mucopolysaccharidosis

Lidia Perenc1

  • 1Institute of Physiotherapy, University of Rzeszów, Warszawska 26A, Rzeszów 35-205, Poland. mieczrad@univ.rzeszow.pl

BMC Research Notes
|July 3, 2013
PubMed

Insights

This study assessed children with mucopolysaccharidosis (MPS), finding significantly impaired physical growth. Anthropometric data can aid in early MPS diagnosis and treatment monitoring.

Area of Science:

  • Pediatric endocrinology
  • Genetics
  • Metabolic disorders

Background:

  • Mucopolysaccharidosis (MPS) encompasses seven distinct genetic disorders.
  • Characterized by enzyme deficiencies leading to glycosaminoglycan accumulation.
  • Clinical features include short stature, skeletal deformities, and developmental delays.

Observation:

  • A detailed anthropometric assessment was conducted on four children diagnosed with MPS types I and II.
  • The study included children aged 4 to 13 years from south-eastern Poland.
  • Physical growth parameters were evaluated against Polish reference norms.

Findings:

  • Children with MPS exhibited significantly reduced longitudinal and transversal body build parameters.
  • Their physical growth was severely disordered compared to healthy peers.
  • Specific anthropometric deficits were noted in the studied cohort.

Implications:

  • Anthropometric data can serve as a valuable tool for the early diagnosis of MPS.
  • Measurements can assist in evaluating the efficacy of ongoing MPS treatments.
  • This research highlights the importance of growth monitoring in pediatric MPS cases.
Abstract

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