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

Journal of Inherited Metabolic Disease

Volumn 27, Issue 2, 2004, Pages 294-296

  Spiekerkoetter, Ute ^a,b   Khuchua, Z ^b   Yue, Z ^b   Strauss, A W ^b  

^a UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^b MONROE CARELL JR CHILDREN S HOSPITAL AT VANDERBILT   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXYACYL COENZYME A DEHYDROGENASE; ACETYL COENZYME A ACYLTRANSFERASE; ACYLCARNITINE; ANTIGEN; ENOYL COENZYME A HYDRATASE; MALATE DEHYDROGENASE; MITOCHONDRIAL PROTEIN;

ALPHA CHAIN; ARTICLE; AUTOPSY; BETA CHAIN; CARDIOMYOPATHY; CASE REPORT; CELL ENERGY; CLINICAL FEATURE; CONTROLLED STUDY; ECHOCARDIOGRAPHY; EXON; GENE AMPLIFICATION; GENE DELETION; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; HEART DISEASE; HEART MUSCLE CELL; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; HYPOGLYCEMIA; IMMUNOBLOTTING; LETHALITY; NEWBORN; NEWBORN DEATH; ONSET AGE; PHENOTYPE; POLYACRYLAMIDE GEL ELECTROPHORESIS; PROTEIN DEFICIENCY; PROTEIN EXPRESSION; PROTEIN FUNCTION; REYE SYNDROME; TISSUE SPECIFICITY;

CARDIOMYOPATHIES; FATAL OUTCOME; HUMANS; INFANT, NEWBORN; METABOLISM, INBORN ERRORS; MULTIENZYME COMPLEXES; PHENOTYPE;

EID: 2942627696     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:BOLI.0000028839.57386.88     Document Type: Article

References (4)

1. den Boer MEJ, Dionisi-Vici C, Chakrapani A, et al (2003) Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement. J Pediatr 142: 684-689.
2. Ibdah JA, Paul H, Zhao Y, et al (2001) Lack of mitochondrial trifunctional protein in mice causes neonatal hypoglycemia and sudden death. J Clin Invest 107: 1403-1409.
3. Lehman JJ, Kelly DP (2002) Transcriptional activation of energy metabolic switches in the developing and hypertrophied heart. Clin Exp Pharmacol Physiol 29: 339-345.
4. Spiekerkoetter U, Sun B, Khuchua Z, et al (2003) Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to β-subunit mutations. Hum Mutat 21: 598-607.