Given the Following Information, Identify Which Disease Is Being Described

Given the following information, identify which disease is being described.
Gene - GBA
Protein - acid beta glucosidase
Gene locus - 1q21
Inheritance and incidence - autosomal recessive; 1 in 100,000 among general population; 1 in 900 among Ashkenazi Jews
Clinical features - Type 1: Hepatosplenomegaly, bone lesions, hematological abnormalities,
Survival into adulthood.Type 2: Severe neuronopathic disease, hepatosplenomegaly, death in early childhood

A)Gaucher disease
B)cystic fibrosis
C)sickle cell disease
D)phenylketonuria

Correct Answer: Show Answer