Delayed diagnosis of mild mucopolysaccharidosis type IVA.

ABSTRACT:

Background

Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease caused by biallelic variants in the N-acetylgalactosamine-6-sulfatase (GALNS) gene and is characterized by progressive and multi-system involvements, dominantly with skeletal deformities. A mild form of MPS IVA often presents with atypical symptoms and can go unrecognized for years.

Methods

The diagnosis of MPS IVA was confirmed via GALNS enzyme activity testing in leukocytes. Clinical features were collected. Molecular analysis was performed by next generation sequence and Sanger sequencing of the GALNS gene. The pathogenicity of the deep intron variant was verified by mRNA analyses.

Results

Thirteen patients with mild MPS IVA from six families were included. All probands first visit pediat

SUBMITTER: Yi M 

PROVIDER: S-EPMC11145893 | biostudies-literature | 2024 Jun

REPOSITORIES: biostudies-literature