Clinical spectrum and outcome of nine patients with a novel genetic variant of galactosialidosis in the Kingdom of Bahrain.

ABSTRACT: Galactosialidosis (GS, OMIM #256540) is a systemic autosomal recessive disorder that is due to a mutation in the cathepsin A (CTSA) gene. Its worldwide prevalence is rare, accounting for ~146 cases reported cases globally. In Bahrain alone, nine cases have been confirmed. This article aims to shed a light on the clinical spectrum and outcome of these nine patients who share the same novel genetic mutation. The article was written retrospectively based on the review of patients' medical records, which included clinical notes, biochemical, radiological, and genetic assessments. Analysis of the data from all nine patients revealed that the diagnosis was most commonly made at the early years of life. As expected from any systemic disorder, the disease affects multiple organ systems with muscul

SUBMITTER: Alsahlawi Z 

PROVIDER: S-EPMC9626659 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature