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The early‐onset phenotype of mitochondrial trifunctional protein deficiency: A lethal disorder with multiple tissue involvement
Author(s) -
Spiekerkoetter U.,
Khuchua Z.,
Yue Z.,
Strauss A. W.
Publication year - 2004
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/b:boli.0000028839.57386.88
Subject(s) - phenotype , cardiomyopathy , genetic heterogeneity , mitochondrion , biology , mutation , clinical phenotype , medicine , endocrinology , genetics , heart failure , gene
Summary: 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.