Gaucher disease type 3c: Expanding the clinical spectrum of an ultra-rare disease.

ABSTRACT: Gaucher disease (GD) type 3 is an autosomal recessive lysosomal disease caused by deficiency of β-glucocerebrosidase (GCase) and encompasses a spectrum of cardiac, neurological, and ophthalmological abnormalities. Although the clinical presentations can be diverse, a recognized clinical trajectory points to an early onset, predominantly before 18 years. GD type 3c is primarily caused by homozygosity for GBA pathogenic variant c.1342G>C (p.Asp448His; historically referred to as D409H) and includes visceral, hematological, skeletal, and cardiac abnormalities. Notably, GD type 3c is distinct from other GD types because it is primarily characterized by valvular heart disease. Yet, with less than 50 patients with GD type 3c reported to date, the phenotypic spectrum and extent of cardiac

SUBMITTER: Wang JS 

PROVIDER: S-EPMC11558466 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature