A 2-year-old male presents with progressive neurological deterioration, developmental regression, and cherry-red macular spots on ophthalmologic examination. Vital signs show HR 98/min, RR 22/min, BP 95/62 mmHg, and temperature 37.2°C. Serum hexosaminidase A levels are markedly decreased at 2 U/L (normal: 8-15 U/L), while hexosaminidase B remains normal. The patient denies recent fever. This biochemical defect would most appropriately be categorized as belonging to which of the following general classes of metabolic disorders?
- A)Mucopolysaccharidosis
- B)Lipid metabolism
- C)GangliosidosisGABARITO
- D)Aminoacidopathy
- E)Porphyria
Explicação
The correct answer is B. Source: Kaplan USMLE Step 1 QBank — Biochemistry Test 1. Ver explicação completa e trilha adaptativa →