Lipid metabolism — MCQs

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?

An investigator is studying the effect of a high-lipid diet on glucose metabolism in Wistar rats. The experimental rat group is fed a high-lipid diet while the control group is fed a low-lipid diet. Two months after initiation of the experiment, the rats in both groups are injected with insulin and serum glucose measurements are obtained. Compared to the control group, the high-lipid diet group has a significantly higher average serum glucose after receiving insulin. Which of the following intracellular changes is most likely involved in the pathogenesis of this finding?

A mother brings her 1-year-old daughter who has had several seizures in the past 2 weeks to the pediatrician. The mother explains that the child is unable to crawl, sit, or even hold up her own head. She thinks the weakness is getting worse. The parents of the child are first cousins, and the mother's sister had one child who died before the age of 3 with similar symptoms. Hexosaminidase A activity was assayed in the blood and found to be absent. Which of the following will be found on fundoscopic examination of the child?

An 8-year-old boy presents with recurrent infections including multiple episodes of pneumonia and diarrhea. He reports difficulty seeing in the dark. Physical examination reveals white patches on the sclera and conjunctival dryness. What is the most likely cause of these findings?

A 43-year-old man presents with the complaint of pain in the small joints of his left hand. The pain is intermittent and cramping in nature in his 2nd and 3rd metacarpophalangeal (MCP) joints. It has progressively worsened over the past few weeks. He also reports that he has felt thirsty more often and has urinated more frequently over the past few weeks. He denies any pain during micturition. His stools are pale in color. He also reports that his skin appears to be darker than usual even though he has not been outdoors much over the past few weeks. Physical exam is significant for tenderness in the 2nd and 3rd MCPs of both hands as well as tenderness in the right upper quadrant of his abdomen. Lab results show: Aspartate aminotransferase (AST) 450 U/L Alanine aminotransferase (ALT) 350 U/L Serum ferritin 460 ng/mL Inappropriately low levels of which of the following is the most likely cause of his symptoms?

A 6-month-old boy presents with decreased growth, pigmented retinopathy, hemolytic anemia, and peripheral neuropathy. You suspect that these signs are the result of a vitamin deficiency leading to increased oxidative damage to lipids. Which of the following is most likely responsible for this patient's symptoms?

A 17-year-old girl is brought to the physician by her mother because she has not had her menstrual period yet. At birth, she had ambiguous genitalia. The mother reports that during the pregnancy she had noticed abnormal hair growth on her chin. A year ago, the girl broke her distal radius after a minor trauma. She is at the 95th percentile for height and 50th percentile for weight. Physical examination shows nodulocystic acne on the face, chest, and upper back. Breast development is at Tanner stage I. Pelvic examination reveals normal pubic hair with clitoromegaly. A pelvic ultrasound shows ovaries with multiple cysts and a normal uterus. Which of the following is the most likely diagnosis?

Steroid hormone synthesis, lipid synthesis, and chemical detoxification are activities of which of the following?

A 13-year-old boy is brought to the physician by his parents, who are concerned about recurrent muscle cramps he experiences while playing soccer. The boy has always loved sports and has been playing in a soccer league for the past 3 years. He now complains of severe cramping pain in his legs after intense practice sessions. He has no significant medical history. His physical examination is unremarkable. A battery of laboratory tests is ordered and they are all normal. Imaging studies yield no abnormalities as well. Which of the following is most likely deficient in this patient?

A 57-year-old man presents the urgent care clinic with a one-week history of diffuse bone pain and generalized weakness. He was diagnosed with end-stage renal disease 6 months ago and is currently on dialysis. His wife, who is accompanying him today, adds that he is not compliant with his medicines. He has been diabetic for the last 10 years and hypertensive for the last 7 years. He has smoked 4–5 cigarettes per day for 30 years but does not drink alcohol. His family history is insignificant. On examination, the patient has a waddling gait. Hypotonia of all the limbs is evident on neurologic examination. Diffuse bone tenderness is remarkable. X-ray of his legs reveal osteopenia and osseous resorption. The final step of activation of the deficient vitamin in this patient occurs by which of the following enzymes?