Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance.

ABSTRACT:

Introduction

Mucopolysaccharidosis (MPS) IVA or Morquio A syndrome is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of the N-acetylgalactosamine-6-sulfatase (GALNS) enzyme, which impairs lysosomal degradation of keratan sulphate and chondroitin-6-sulphate. The multiple clinical manifestations of MPS IVA present numerous challenges for management and necessitate the need for individualised treatment. Although treatment guidelines are available, the methodology used to develop this guidance has come under increased scrutiny. This programme was conducted to provide evidence-based, expert-agreed recommendations to optimise management of MPS IVA.

Methods

Twenty six international healthcare professionals across multiple disciplines, with expertise in

SUBMITTER: Akyol MU 

PROVIDER: S-EPMC6567385 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature