Bio-Plex immunoassay measuring the quantity of lysosomal N-acetylgalactosamine-6-sulfatase protein in dried blood spots for the screening of mucopolysaccharidosis IVA in newborn: a pilot study.

ABSTRACT:

Objective

Mucopolysaccharidosis (MPS) IVA (Morquio syndrome A) is an autosomal-recessive lysosomal storage disorder caused by the deficiency of N-acetylgalactosamine-6-sulfatase (GALNS) resulting in excessive lysosomal storage of keratan sulfate. Treatments for MPS IVA have recently become available with optimal outcomes associated with early diagnosis and treatment which can be achieved by newborn screening.

Design

Newborn screening programme for MPS IVA pilot study.

Setting

MacKay Memorial Hospital (MMH), Taipei and another three branch hospitals in Taiwan.

Participants

A total of 7415 newborns were born in four branch hospitals of MMH and had joined the MPS IVA newborn screening programme. Written informed consents were obtained from parents prior to

SUBMITTER: Chuang CK 

PROVIDER: S-EPMC5734244 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature