A 6 year old boy is brought to the pediatrician after a routine school urine screen shows a positive test for reducing substances. He has no abdominal pain, vomiting, or developmental delay. He eats fruit frequently and has normal growth, normal liver enzymes, and normal fasting glucose. Urinalysis is otherwise unremarkable. Which of the following is the most likely enzyme deficiency?
- A)FructokinaseGABARITO
- B)Aldolase B
- C)Glucose 6 phosphatase
- D)Galactokinase
- E)Galactose 1 phosphate uridyltransferase
Explicação
This child has essential fructosuria due to fructokinase deficiency. The disorder is benign because fructose is not trapped in hepatocytes, so patients are asymptomatic aside from fructose in the blood and urine causing a positive reducing substance test. Norm... Ver explicação completa e trilha adaptativa →