A 2 month old boy has poor feeding, tachypnea, and developmental delay. He has intermittent ataxia and hypotonia. Laboratory studies show elevated serum lactate and pyruvate, but his lactate to pyruvate ratio is normal. Brain MRI demonstrates ventriculomegaly and corpus callosum abnormalities. Which of the following is the most likely enzyme deficiency?
- A)Fructokinase
- B)Pyruvate carboxylase
- C)Glucose 6 phosphatase
- D)Pyruvate dehydrogenase complexGABARITO
- E)Propionyl CoA carboxylase
Explicação
This infant has pyruvate dehydrogenase deficiency. Failure to convert pyruvate to acetyl CoA leads to shunting of pyruvate toward lactate and alanine, producing lactic acidosis and neurologic dysfunction, especially in tissues highly dependent on aerobic metab... Ver explicação completa e trilha adaptativa →