title: The early-onset phenotype of mitochondrial trifunctional protein deficiency: a lethal disorder with multiple tissue involvement.
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.
authors.affiliation: Department of General Pediatrics, University Children's Hospital, Düsseldorf, Germany. ute.spiekerkoetter@uni-duesseldorf.de
authors.forename: U
authors.initials: U
authors.lastname: Spierkerkoetter
authors.forename: Z
authors.initials: Z
authors.lastname: Khuchua
authors.forename: Z
authors.initials: Z
authors.lastname: Yue
authors.forename: A W
authors.initials: AW
authors.lastname: Strauss
mesh_terms: D009202:Cardiomyopathies / Q000209:etiology / Q000378:metabolism*; D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000235:genetics* / Q000378:metabolism*; D063991:Mitochondrial Trifunctional Protein; D009097:Multienzyme Complexes / Q000172:deficiency / Q000235:genetics*; D010641:Phenotype
chemical_list: D009097:Multienzyme Complexes; D063991:Mitochondrial Trifunctional Protein