|
Year |
2005 |
|---|---|
|
Question Number |
80. |
|
Category |
Orthopaedic Science |
Question
Gaucher’s disease is characterized by what enzymatic deficiency?
1- Homogentistic acid oxidase
2- Glucocerebrosidase
3- Uroporphyrinogen decarboxylase
4- Galactosyltransferase I
5- Matrix metalloproteinase-1
Figures
Answer (click for answer)
PREFERRED RESPONSE: 2
The question is straight memorization. Gaucher’s disease is a lysosomal storage disease due to a deficiency of glucocerebrosidase. It is characterized by erosion of cortical bone, AVN, painful bone crises, and pathologic fractures. It is treated with mannose substitution, analgesia, fracture management, and joint arthroplasty as needed. Homogentistic acid oxidase deficiency is seen in alkaptonuria, which exhibits progressive joint arthropathy due to pigment deposition and cartilage brittleness. Uroporphyrinogen decarboxylase deficiency is seen in porphyria cutanea tarda, which has multiple cutaneous manifestations. Galactosyltransferase I deficiency is seen in a type of Ehlers-Danlos syndrome, a group of diseases marked by defective collagen production. Matrix metalloproteinase-1 is a proteinase involved in collagen cleavage.
Reference: RECOMMENDED READINGS: Buckwalter JA, Einhorn TA, Simon SR (eds): Orthopaedic Basic Science: Biology and Biomechanics of the Musculoskeletal System, ed 2. Rosemont, IL, American Academy of Orthopaedic Surgeons, 2000, pp 471-488.
Pastores GM, Patel MJ, Firooznia H: Bone and joint complications related to Gaucher’s disease. Curr Rheumatol Rep 2000;2:175-180.