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Mitochondrial trifunctional protein deficiency
Did you mean Mitochondrial bifunctional protein deficiency?
- ... 26 mutations in the HADHB gene that cause mitochondrial trifunctional protein deficiency. These mutations reduce all three enzyme activities of ... buildup causes the other signs and symptoms of mitochondrial trifunctional protein deficiency. More About This Health Condition A few mutations ...
- ... have identified several HADHA gene mutations that cause mitochondrial trifunctional protein deficiency. These mutations reduce all three enzyme activities of ...