Gaucher's disease

Gaucher's disease is a rare, autosomal recessive lysosomal storage disorder caused by mutations in the *GBA1* gene, resulting in deficient activity of the lysosomal enzyme glucocerebrosidase

Gaucher's disease is a rare, autosomal recessive lysosomal storage disorder caused by mutations in the *GBA1* gene, resulting in deficient activity of the lysosomal enzyme glucocerebrosidase This deficiency leads to the progressive accumulation of glucocerebroside within the mononuclear phagocyte system, generating lipid-laden macrophages (Gaucher cells) primarily in the spleen, liver, and bone marrow Clinically, it manifests along a phenotypic spectrum characterized by hepatosplenomegaly, anemi...

This deficiency leads to the progressive accumulation of glucocerebroside within the mononuclear phagocyte system, generating lipid-laden macrophages (Gaucher cells) primarily in the spleen, liver, and bone marrow The condition can present without primary central nervous system involvement (type 1) or with severe, acute or chronic neuropathic complications (types 2 and 3)

This deficiency leads to the progressive accumulation of glucocerebroside within the mononuclear phagocyte system, generating lipid-laden macrophages (Gaucher cells) primarily in the spleen, liver, and bone marrow

Clinically, it manifests along a phenotypic spectrum characterized by hepatosplenomegaly, anemia, thrombocytopenia, and skeletal pathology, including bone pain, osteopenia, and avascular necrosis The condition can present without primary central nervous system involvement (type 1) or with severe, acute or chronic neuropathic complications (types 2 and 3)