A 3 week old male infant is brought in for poor visual tracking. He was born at term and has been feeding well on formula. Examination reveals bilateral cataracts but no jaundice, hepatomegaly, or lethargy. Urine testing is positive for reducing substances. Which of the following is the most likely deficient enzyme?
- A)Glucose 6 phosphatase
- B)Fructokinase
- C)Galactose 1 phosphate uridyltransferase
- D)GalactokinaseGABARITO
- E)Branching enzyme
Explicação
This infant most likely has galactokinase deficiency. Galactose is shunted to galactitol, producing cataracts, but the absence of liver failure, sepsis, and severe systemic illness helps distinguish it from classic galactosemia. The reducing substances in urin... Ver explicação completa e trilha adaptativa →