1. Compare and contrast the usual inheritance patterns and physiologic effects of nonenzyme gene mutations vs. enzyme gene mutations (Robbins 5th Ed., p. 128-132) or (Robbins 6th Ed., p. 144-148).
2. Describe the characteristic pathology and the principal clinical features of the following lysosomal storage diseases as they are related to the material stored and the principal organ systems in which the material is stored (Robbins 5th Ed., p. 140-147) or (Robbins 6th Ed., p. 155-156, 158-162 ):
a. Tay-Sachs disease
b. Gaucher disease
c. Hurler syndrome
d. Pompe disease
1. (Robbins 5th Ed., p. 128-132, 140-147) or (Robbins 6th Ed., p. 144-148, 155-156, 158-162)
2. Images in Genetic Disorders Case Studies folder: Case 1
A 49-year-old woman complains of increasing pain in her right leg and hip; today she can no longer bear weight on her right leg. Her medical history is unremarkable except that her obstetrician had noted mild splenomegaly during her third pregnancy when she was 30 years old. She declined any workup at that time and has felt well since except for some recent abdominal discomfort and the hip pain. Family history reveals that she is Jewish, that her 3 children are healthy, and that her two siblings are healthy except that her younger brother has "back trouble."
Physical examination revealed marked splenomegaly. Laboratory data included a low platelet count and anemia. Radiologic evaluation of her right hip and leg showed lytic lesions and a probable linear fracture in the femoral head and neck and an "Erlenmeyer flask" deformity of the distal femur. After a transfusion of platelets, she was taken to surgery where a pathologic fracture of her right femoral neck was confirmed and a bone marrow biopsy was performed. After the frozen section diagnosis of the bone marrow was made, a splenectomy and a right hip replacement were performed.