A 2-week-old male presents with projectile vomiting after each milk-based formula feeding and failure to gain weight. Vital signs show HR 128/min, RR 32/min, temperature 37.2°C. Serum galactose is markedly elevated at 18 mg/dL (normal <20 mg/dL in newborns, but symptomatic at this level). Urine reducing substances are present. Biochemical testing confirms severe galactose-1-phosphate uridyltransferase deficiency. No hepatomegaly is currently appreciated. If left untreated, what is the most likely long-term outcome?

  1. A)Benign disease except for cataract formation
  2. B)Death in infancyGABARITO
  3. C)Chronic emphysema appearing in early adulthood
  4. D)Chronic renal failure appearing in adolescence
  5. E)Gastrointestinal symptoms that remit with puberty

Explicação

The correct answer is D. Source: Kaplan USMLE Step 1 QBank — Biochemistry Test 1. Ver explicação completa e trilha adaptativa →

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