In which disease is beta glucocerebrosidase deficient?

Beta-glucocerebrosidase is an enzyme that plays a crucial role in the metabolism of glucocerebrosides by breaking them down into glucose and ceramide. A deficiency in this enzyme leads to the accumulation of glucocerebrosides within cells, particularly macrophages, resulting in various clinical manifestations.

Gaucher disease is directly caused by a deficiency in beta-glucocerebrosidase. This genetic disorder leads to an array of symptoms including enlargement of the liver and spleen, bone problems, and, in some cases, neurological issues. The accumulation of glucocerebrosides in the cells leads to the characteristic "Gaucher cells," which are a key diagnostic indicator for the disease.

In contrast, the other diseases listed are associated with different enzyme deficiencies. Fabry disease is linked to a deficiency in alpha-galactosidase A, Niemann-Pick disease is caused by a deficiency in sphingomyelinase, and Tay-Sachs disease results from a deficiency in hexosaminidase A. Therefore, the correct answer, due to the specific deficiency of beta-glucocerebrosidase, is Gaucher disease.