A 2-year-old male presents with developmental delay, hepatosplenomegaly, and progressive neurologic decline. Vital signs show HR 110 bpm, RR 24/min, BP 95/60 mmHg, and temperature 37.2°C. Bone marrow biopsy reveals characteristic foam cells. Laboratory studies demonstrate elevated chitotriosidase levels and decreased acid sphingomyelinase activity. The child has no fever or infectious symptoms. He deteriorated progressively despite supportive care and died at age 3. Which metabolic process was most likely deficient in this patient?
- A)Mitochondrial fatty acid β-oxidation
- B)Lysosomal glycolipid metabolismGABARITO
- C)Aromatic amino acid metabolism
- D)Hepatic glycogen metabolism
- E)Peroxisomal fatty acid α-oxidation
Explicação
The correct answer is C. Source: Kaplan USMLE Step 1 QBank — Biochemistry Test 1. Ver explicação completa e trilha adaptativa →