A 4-year-old boy with developmental delay presents with self-injurious behavior, repeatedly striking his head against walls and severely biting his fingertips requiring bandaging. Vital signs: BP 95/60, HR 98, RR 20, Temp 37°C, SpO2 98%. Serum uric acid is elevated at 9.2 mg/dL. He denies recent fever or joint pain. His parents report normal birth history. Elevated blood levels of which of the following would be most diagnostic of this disorder?
- A)Uric acidGABARITO
- B)Dicarboxylic acids
- C)Ammonium ion
- D)Orotic acid
- E)Phenylacetate
Explicação
The correct answer is E. Source: Kaplan USMLE Step 1 QBank — Biochemistry Test 1. Ver explicação completa e trilha adaptativa →