A 5-day-old female newborn develops jaundice, poor feeding, and vomiting after breastfeeding. She becomes lethargic and is admitted to the NICU. Vital signs show temperature 37.2°C, HR 165/min, RR 52/min, BP 55/32 mmHg. Physical examination reveals hepatomegaly and bilateral cataracts. Laboratory studies show total bilirubin 18 mg/dL, normal direct bilirubin, and elevated urine-reducing substances. Blood culture grows Escherichia coli. No acidosis is present. Which enzyme deficiency best explains this presentation?
- A)Homogentisate oxidase
- B)Galactokinase
- C)Aldolase B
- D)Galactose 1 phosphate uridyltransferaseGABARITO
- E)Fructokinase
Explicação
This newborn has classic galactosemia due to galactose 1 phosphate uridyltransferase deficiency. Galactose 1 phosphate accumulation causes liver toxicity, while galactitol accumulation causes cataracts. Early jaundice, hepatomegaly, cataracts, and E coli sepsi... Ver explicação completa e trilha adaptativa →