Biochemistry

A couple comes to the clinic for preconception counseling. They are offered genetic screening because they are of Ashkenazi Jewish descent. Test results show that both are carriers for a lysosomal enzyme deficiency disorder that results in decreased metabolic degradation of a phospholipid substrate to ceramide, which leads to a buildup of the phospholipid. They […]

A 45-year-old man comes to the office due to slowly progressive back and joint pain. In particular, his knee and ankle joints are stiff and painful when he walks. Over the past year, the patient has also experienced excessive sweating. Which of the following is most likely to be associated with this patient’s condition? Explanation: