A 7 year old boy is evaluated for chronic jaundice and fatigue. He has scleral icterus and splenomegaly. Laboratory studies show hemoglobin 8.8 g per dL, elevated indirect bilirubin, elevated lactate dehydrogenase, and increased reticulocyte count. Peripheral smear demonstrates echinocytes. Which of the following enzyme deficiencies most likely underlies this disorder?
- A)Glucose 6 phosphatase
- B)Ornithine transcarbamylase
- C)Hexosaminidase A
- D)Glucose 6 phosphate dehydrogenase
- E)Pyruvate kinaseGABARITO
Explicação
This child has pyruvate kinase deficiency, a glycolytic defect that causes chronic hemolytic anemia. Erythrocytes lack mitochondria and rely entirely on glycolysis for ATP, so impaired pyruvate kinase activity leads to membrane failure, splenic destruction, an... Ver explicação completa e trilha adaptativa →