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From FA 2015 on page 93, vit E def leads to methylmalonic aciduria. Any idea why?
Vit E def and Methylmalonic aciduria
- Thread starter MudPhud20XX
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I do not think my copy says that.
"Neurologic presentation may appear similar to vitamin B12 deficiency, but without megaloblastic anemia, hypersegmented neutrophils, or increase in serum methylmalonic acid levels."
"Neurologic presentation may appear similar to vitamin B12 deficiency, but without megaloblastic anemia, hypersegmented neutrophils, or increase in serum methylmalonic acid levels."
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Never mind, I msread it. My apology!
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no methylmalonic aciduria in vit E def!
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Was just talking about methylmalonyl-CoA/methylmalonic acid today actually.
Clinically it's practically never used. But relevance on Step 1 is buildup in setting of B12 deficiency leads to myelin sheath disruption. So if you get a vague question with high MCV/hypersegmented neutrophils, if they mention high methylmalonic acid or methylmalonyl-CoA, the answer is B12 deficiency, not B9 (folate).
Propionyl-CoA (3C unit mostly from odd-chain FA beta-oxidation), via propionyl-CoA carboxylase and B7 --> methylmalonyl-CoA
Methylmalonyl-CoA, via methylmalonyl-CoA mutase and B12 --> succinyl-CoA of TCA cycle
Clinically it's practically never used. But relevance on Step 1 is buildup in setting of B12 deficiency leads to myelin sheath disruption. So if you get a vague question with high MCV/hypersegmented neutrophils, if they mention high methylmalonic acid or methylmalonyl-CoA, the answer is B12 deficiency, not B9 (folate).
Propionyl-CoA (3C unit mostly from odd-chain FA beta-oxidation), via propionyl-CoA carboxylase and B7 --> methylmalonyl-CoA
Methylmalonyl-CoA, via methylmalonyl-CoA mutase and B12 --> succinyl-CoA of TCA cycle
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Nice. Also, Vitamin B12 is needed for homocysteine methyl transferase in addition to methylmalonyl-coa mutase, so if they talk about HMT you know where they are going with the question.
