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?
- A)Benign disease except for cataract formation
- B)Death in infancyGABARITO
- C)Chronic emphysema appearing in early adulthood
- D)Chronic renal failure appearing in adolescence
- 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 →