A 10-year-old male with short stature is being evaluated for progressive neuropathy. Deep tendon reflexes are decreased, and vibratory sensation and proprioception are impaired. He has ataxia and a spastic gait. Ophthalmologic examination reveals decreased vision in dim light and pigmentary retinal degeneration. He has a history of frequent diarrhea with fatty stools. A serum lipid profile shows: Cholesterol 33 mg/dL (normal 132-220), Triglyceride 0 mg/dL (normal 32-150), HDL cholesterol 28 mg/dL (normal 34-86). Genetic testing reveals a mutation in a gene encoding a protein necessary for normal lipoprotein metabolism. In which of the following genes is this mutation most likely?
- A)ApoB100 receptor gene
- B)Lecithin acyl cholesterol transferase (LCAT) gene
- C)ApoB geneGABARITO
- D)ApoC2 gene
- E)ApoE gene
Explicação
The correct answer is A. Source: Kaplan USMLE Step 1 QBank — Biochemistry Test 2. Ver explicação completa e trilha adaptativa →