Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience.

ABSTRACT:

Background

Mucopolysaccharidosis (MPS) IVA or Morquio A syndrome is a progressive and disabling disease characterized by a deficiency of the enzyme N-acetylgalactosamine-6-sulphate sulphatase. Its clinical presentation is very heterogeneous and poorly understood in adults. The aim of this study was to describe the clinical manifestations of MPS IVA in adult patients in Spain and to assess their health-related quality of life (HRQoL).

Results

Thirty-three patients from nine reference centres participated in the study. The median age was 32 (interquartile range [IQR]: 20.5-40.5) years. The phenotype was classical in 54.5% of patients, intermediate in 33.3% of patients, and non-classical in 12.1% of patients. The most common clinical manifestation was bone dysplasia, with a med

SUBMITTER: Quijada-Fraile P 

PROVIDER: S-EPMC8565075 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature