AI Article Synopsis
- Mitochondrial trifunctional protein deficiency is a disorder affecting long-chain fatty acid metabolism, leading to severe heart issues like cardiomyopathy and arrhythmias.
- Triheptanoin, a synthetic medium-chain triglyceride, has shown potential to improve cardiomyopathy in some cases, although research is limited for severe presentations.
- A case is presented of a newborn with severe disease who did not improve despite receiving mechanical support and triheptanoin treatment.
Article Abstract
Mitochondrial trifunctional protein deficiency is a long-chain fatty acid disorder that may include manifestations of severe cardiomyopathy and arrhythmias. The pathophysiology for the severe presentation is unclear but is an indicator for worse outcomes. Triheptanoin, a synthetic medium chain triglyceride, has been reported to reverse cardiomyopathy in some individuals, but there is limited literature in severe cases. We describe a neonatal onset of severe disease whose clinical course was not improved despite mechanical support and triheptanoin.
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Triheptanoin use for severe neonatal cardiomyopathy secondary to mitochondrial trifunctional protein deficiency: a first report.
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Article Synopsis
- Mitochondrial trifunctional protein deficiency is a disorder affecting long-chain fatty acid metabolism, leading to severe heart issues like cardiomyopathy and arrhythmias.
- Triheptanoin, a synthetic medium-chain triglyceride, has shown potential to improve cardiomyopathy in some cases, although research is limited for severe presentations.
- A case is presented of a newborn with severe disease who did not improve despite receiving mechanical support and triheptanoin treatment.
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