Gaucher disease

Gaucher disease is an inherited lysosomal storage disorder caused by deficient glucocerebrosidase, leading to glucocerebroside accumulation, especially in spleen, liver, and bone marrow.

Glucocerebrosidase: A lysosomal enzyme that breaks down glucocerebroside into glucose and ceramide. Its deficient activity initiates the substrate accumulation that defines Gaucher disease.
Enzyme replacement therapy: Treatment that supplies a functional enzyme to compensate for an inherited enzyme deficiency. Infused glucocerebrosidase improves many blood, spleen, liver, and bone manifestations.
Gaucher disease type 1: The non-neuronopathic form of Gaucher disease, with manifestations that commonly affect blood, spleen, liver, and bones. It is the most common type and has no primary central nervous system involvement.
Autosomal recessive inheritance: An inheritance pattern in which disease usually develops when both copies of a gene carry disease-causing variants. Gaucher disease typically requires pathogenic variants in both GBA1 copies.
Splenomegaly: Abnormal enlargement of the spleen. Gaucher-cell accumulation commonly enlarges the spleen and can lower blood-cell counts.
GBA1: A gene encoding glucocerebrosidase, with pathogenic variants causing Gaucher disease. Variants in this gene account for most inherited cases.
Imiglucerase: A recombinant glucocerebrosidase used as enzyme replacement therapy for Gaucher disease. It is a widely used enzyme replacement treatment for the disease.
Gaucher disease type 2: An acute neuronopathic form of Gaucher disease with severe neurological disease beginning in infancy. Its rapid neurological progression distinguishes it from type 1.
GBA1 mutation: A disease-associated alteration in the DNA sequence of the GBA1 gene. Different GBA1 variants can produce a wide range of disease severity.
Hepatomegaly: Abnormal enlargement of the liver. Lipid-laden macrophages can enlarge the liver in Gaucher disease.

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