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Subject: Tommy's Concepts
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Subject: Tommy's Concepts
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Case: HARD, but doable: You are in a city in Israel where the incidence of this dx is 6 in 1000, very very common. A 5 year old boy is slowly starting to lose his protective reflexes, and becoming ataxic (demyelination). He is getting worsening respiratory problems. This disease name starts with the letter "K" and sounds like the word "Cab". What is the deficient enzyme here? What is the inheritance?
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