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Mitochondrial trifunctional protein deficiency
- Mitochondrial trifunctional protein deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without ...
- ... 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 ...
- ... ClinicalTrials.gov LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY PubMed Angdisen J, Moore VD, Cline JM, Payne RM, Ibdah JA. Mitochondrial trifunctional protein defects: molecular basis and novel therapeutic approaches. Curr ...
