An 18-month-old girl is brought to the pediatrician’s office for failure to thrive and developmental delay. The patient’s mother says she has not started speaking and is just now starting to pull herself up to standing position. Furthermore, her movement appears to be restricted. Physical examination reveals coarse facial features and restricted joint mobility. Laboratory studies show increased plasma levels of several enzymes. Which of the following is the underlying biochemical defect in this patient?
ACongenital lack of lysosomal formation
BInappropriate protein targeting to endoplasmic reticulum
CFailure of mannose phosphorylation
DInappropriate degradation of lysosomal enzymes
EMisfolding of nuclear proteins
A 15-year-old boy is sent from gym class with a chief complaint of severe muscle aches. In class today he was competing with his friends and therefore engaged in weightlifting for the first time. A few hours later he was extremely sore and found that his urine was red when he went to urinate. This concerned him and he was sent to the emergency department for evaluation. Upon further questioning, you learn that since childhood he has always had muscle cramps with exercise. Physical exam was unremarkable. Upon testing, his creatine kinase level was elevated and his urinalysis was negative for blood and positive for myoglobin. Thinking back to biochemistry you suspect that he may be suffering from a hereditary glycogen disorder. Given this suspicion, what would you expect to find upon examination of his cells?
ANormal glycogen structure
BShort outer glycogen chains
CAccumulation of glycogen in lysosomes forming dense granules
DGlycogen without normal branching pattern
EAbsence of glycogen in muscles
A 47-year-old woman presents to her primary care physician because of pain on urination, urinary urgency, and urinary frequency for 4 days. This is the third time for her to have these symptoms over the past 7 months. She was recently treated for candidal intertrigo. Vital signs reveal a temperature of 36.7°C (98.0°F), blood pressure of 110/70 mm Hg and pulse of 75/min. Physical examination is unremarkable except for morbid obesity. Her father has type 2 diabetes complicated by end-stage chronic kidney disease. A1C is found to be 8.5%. The patient is given a prescription for her urinary symptoms. Which of the following is the best next step for this patient?
ASulphonylurea added to metformin
BBariatric surgery
CRepeating the A1c test
DBasal-bolus insulin
EMetformin
+ 7 more in the PDF
Browse all chapters