Step I NBME Form 2 - Question....blanking out here

[betz]

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This question is killing me, and I cant find the answer. Can someone help me out here? I am sure its something easy, but I am lost. 😕

Hyperactive 6yo with cerebral edema, ataxia, and microcytic anemia. What enzyme test to confirm dx?

5-ALA
G6PDH
Glutathione transferase
Lactate DH
Pyruvate kinase

 

[idq1i]

sounds like porhyria. test for 5-ala

 

[Chandler]

This question is killing me, and I cant find the answer. Can someone help me out here? I am sure its something easy, but I am lost. 😕

Hyperactive 6yo with cerebral edema, ataxia, and microcytic anemia. What enzyme test to confirm dx?

5-ALA
G6PDH
Glutathione transferase
Lactate DH
Pyruvate kinase

I'll go with Chronic Lead Poisoning since it is a 6 yo child. 5-ALA builds up because hemoglobin synthesis is blocked. This causes ALA to spill into the urine. This is analyzed with a 24 hour urine sample. BTW, this also matches the microcytic anemia. Ataxia and hyperactivity is also attributed to lead's effect on the CNS.