A 6-month-old girl is brought to the emergency department by her father after he observed jerking movements of her arms and legs earlier in the day. She appears lethargic. Physical examination shows generalized hypotonia. The liver edge is palpable 3 cm below the right costophrenic angle. Her fingerstick glucose shows hypoglycemia. Serum levels of acetone, acetoacetate, and β-hydroxybutyrate are undetectable. Molecular genetic testing shows a mutation in the carnitine palmitoyltransferase II gene. This patient will most likely benefit from supplementation with which of the following?
AThiamine
BCoenzyme A
CMethionine
DTetrahydrobiopterin
EMedium-chain triglycerides
A 12-year-old male presents to the pediatrician after two days of tea-colored urine which appeared to coincide with the first day of junior high football. He explains that he refused to go back to practice because he was humiliated by the other players due to his quick and excessive fatigue after a set of drills accompanied by pain in his muscles. A blood test revealed elevated creatine kinase and myoglobulin levels. A muscle biopsy was performed revealing large glycogen deposits and an enzyme histochemistry showed a lack of myophosphorylase activity. Which of the following reactions is not occurring in this individual?
ACleaving alpha-1,6 glycosidic bonds from glycogen
BCreating alpha-1,6 glycosidic bonds in glycogen
CBreaking down glycogen to glucose-1-phosphate
DConverting glucose-6-phosphate to glucose
EConverting galactose to galactose-1-phosphate
A 48-year-old woman comes to the physician because of a 6-month history of muscle stiffness, myalgia, and a 7-kg (15-lb) weight gain. Her last menstrual period was 4 months ago. Physical examination shows cold, dry skin, and proximal muscle weakness. Deep tendon reflexes are 2+ bilaterally, with delayed relaxation. The creatine kinase level is 2,940 U/L. Which of the following is the most appropriate next step in diagnosis?
AThyroid function tests
BRepetitive nerve stimulation
CSerum electrolytes
DMuscle biopsy
ESerum assay for muscle specific tyrosine kinase antibody
+ 7 more in the PDF
Browse all chapters