GAU-PED study for early diagnosis of Gaucher disease in children with splenomegaly and cytopenia.

ABSTRACT:

Background

Gaucher disease (GD) diagnosis can be delayed due to non-specific symptoms and lack of awareness, leading to unnecessary procedures and irreversible complications. GAU-PED study aims to assess GD prevalence in a high-risk pediatric population and the presence, if any, of novel clinical or biochemical markers associated with GD.

Materials and methods

DBS samples were collected and tested for β-glucocerebrosidase enzyme activity for 154 patients selected through the algorithm proposed by Di Rocco et al. Patients showing β-glucocerebrosidase activity below normal values were recalled to confirm the enzyme deficiency with the gold standard essay on cellular homogenate. Patients tested positive at the gold standard analysis were evaluated through GBA1 gene sequencing.<

SUBMITTER: Pession A 

PROVIDER: S-EPMC10273721 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature