Complete deficiency of mitochondrial trifunctional protein due to a novel mutation within the β-subunit of the mitochondrial trifunctional protein gene leads to failure of long-chain fatty acid β-oxidation with fatal outcome

European Journal of Pediatrics

Volumn 162, Issue 2, 2003, Pages 90-95

  Schwab, Karl Otfried ^a   Ensenauer, Regina ^a   Matern, Dietrich ^b   Uyanik, Gökhan ^a   Schnieders, Birgit ^a   Wanders, Ronald J A ^c   Lehnert, Willy ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b MAYO CLINIC   (United States)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

Hydrops fetalis; Mitochondrial fatty acid oxidation; Mitochondrial trifunctional protein; Sudden infant death

Indexed keywords

ACYLCARNITINE; LONG CHAIN FATTY ACID; MITOCHONDRIAL PROTEIN; MITOCHONDRIAL TRIFUNCTIONAL PROTEIN; PROTEIN SUBUNIT; UNCLASSIFIED DRUG;

ACIDOSIS; ARTICLE; BLOOD ANALYSIS; CARDIOMYOPATHY; CASE REPORT; CHORION VILLUS; CONSANGUINITY; CONTROLLED STUDY; FATTY ACID OXIDATION; FEMALE; FETUS HYDROPS; HUMAN; INBORN ERROR OF METABOLISM; INFANT; MALE; MISSENSE MUTATION; MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; NEWBORN; NEWBORN DEATH; PARENT; PRIORITY JOURNAL; RESPIRATORY FAILURE;

EID: 0037323578     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-002-1035-4     Document Type: Article

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