Mitochondria
Methylmalonyl CoA Isomerase
Varying MMA autosomal recessive mutations
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Content: Robust 3-D Diagnoses
Diagnoses:
1. 3-dimensional
2. succinct
3. robust
3-dimensions:
2. pathological lesion
Succinct:
1. single line per dimension
2. clear
3. symptomatology implied
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- Diagnosis
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- What ?
- Why ?
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Catabolism of Isoleucine/Valine & Threonine/Methionine, Cholesterol and Odd-chain fatty acids leads to formation of proprionic acid, which is then converted to MMCoA by biotin dependent carboxylation.
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