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:
Verified
Q1: Which disease would benefit from enzyme replacement
Q3: Individuals with what trisomy are severely affected
Q4: Which of the following statements is true
Q5: Sickle cell disease is the prototypical _
Q6: A patient with a1-antitrypsin deficiency would receive
Q7: Tay-Sachs Disease is:
A)autosomal recessive
B)autosomal dominant
C)X-linked recessive
D)X-linked dominant
Q8: What chromosome abnormality occurs in Turner Syndrome?
A)Trisomy
Q9: Identify which statement is not true regarding
Q10: Which of the following is not true
Q11: Which of the following is considered a
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