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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 ...
- Mitochondrial Diseases (National Library of Medicine)Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive ...
- Newborn Screening (National Library of Medicine)Your newborn infant has screening tests before leaving the hospital. There may be different tests depending on the state where you live. They include: Tests ...
- ... 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 ...
