PMID: 15243991Jul 13, 2004Paper

The early-onset phenotype of mitochondrial trifunctional protein deficiency: a lethal disorder with multiple tissue involvement

Journal of Inherited Metabolic Disease
U SpierkerkoetterA W Strauss

Abstract

Mitochondrial trifunctional protein (TFP) deficiency is a clinically heterogeneous disorder with phenotypes of different severity. Early onset, severe forms predominantly exhibit cardiomyopathy, life-threatening arrhythmias and liver dysfunction; the later-onset, milder phenotype is mainly characterized by neuromyopathic features. The mechanisms that determine these heterogeneous presentations are unknown. We performed multiple tissue immunoblots from a patient with early-onset, lethal TFP deficiency and demonstrated absent TFP antigen in all. The predominant cardiac manifestation of severe TFP deficiency reflects its essential role in myocardial energetics, not its tissue-specific expression.

References

Jun 8, 2001·The Journal of Clinical Investigation·J A IbdahA W Strauss
May 3, 2002·Clinical and Experimental Pharmacology & Physiology·John J Lehman, Daniel P Kelly

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Citations

Sep 11, 2010·Journal of Inherited Metabolic Disease·Ute SpiekerkoetterBridget Wilcken
May 10, 2012·Molecular Endocrinology·E Sandra ChocronJames D Lechleiter
Jul 10, 2013·Neonatal Network : NN·Sharon Anderson, Susan Sklower Brooks
Jun 7, 2014·Biochimica Et Biophysica Acta·C M L TouwD J Reijngoud
Feb 4, 2016·Bioscience Reports·Abena Nsiah-Sefaa, Matthew McKenzie

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