Document Detail

Intrauterine cardiomyopathy and cardiac mitochondrial proliferation in mitochondrial trifunctional protein (TFP) deficiency.
MedLine Citation:
PMID:  18485779     Owner:  NLM     Status:  MEDLINE    
Because of a switch in energy-producing substrate utilization from glucose in the fetal period to fatty acids postnatally, intrauterine morbidity of fatty acid oxidation defects has widely been denied. We report the intrauterine development of severe cardiomyopathy in a child with mitochondrial trifunctional protein deficiency after 27 weeks of gestation. The child was born at 31 weeks of gestation and died on day 3 of life. Severe cardiac mitochondrial proliferation was observed. Molecular analysis of both TFP genes was performed and confirmed a homozygous mutation in the TFP alpha-subunit introducing a stop codon at amino acid position 256 (g.871C>T, p.R256X). Despite severe intrauterine decompensation in our patient, no HELLP-syndrome or acute fatty liver of pregnancy was observed in the mother. In the pathogenesis of maternal HELLP-syndrome, toxic effects of accumulating long-chain hydroxy-acyl-CoAs or long-chain hydroxy-acylcarnitines are suspected. In our patient, acylcarnitine analysis on day 2 of life during severest metabolic decompensation did not reveal massive accumulation of long-chain hydroxy-acylcarnitines in blood, suggesting other pathogenic factors than toxic effects. The most important pathogenic mechanism for the development of intrauterine cardiomyopathy appears to be significant cardiac energy deficiency. In conclusion, our report implicates that fatty acid oxidation does play a significant role during intrauterine development with special regard to the heart. Severe cardiac mitochondrial proliferation in TFP deficiency suggests pathophysiologically relevant energy deficiency in this condition.
Ute Spiekerkoetter; Martina Mueller; Eva Cloppenburg; Reinald Motz; Ertan Mayatepek; Burkhard Bueltmann; Christoph Korenke
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2008-05-15
Journal Detail:
Title:  Molecular genetics and metabolism     Volume:  94     ISSN:  1096-7206     ISO Abbreviation:  Mol. Genet. Metab.     Publication Date:  2008 Aug 
Date Detail:
Created Date:  2008-07-14     Completed Date:  2008-08-14     Revised Date:  2012-11-16    
Medline Journal Info:
Nlm Unique ID:  9805456     Medline TA:  Mol Genet Metab     Country:  United States    
Other Details:
Languages:  eng     Pagination:  428-30     Citation Subset:  IM    
Department of General Pediatrics, University Children's Hospital, Moorenstr. 5, 40225 Duesseldorf, Germany.
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MeSH Terms
Cardiomyopathies / enzymology,  genetics,  physiopathology*
Cell Proliferation*
Codon, Nonsense
Fatal Outcome
Fatty Acids / metabolism
Fetal Diseases / enzymology,  genetics,  physiopathology
Infant, Newborn
Metabolism, Inborn Errors / enzymology,  genetics,  pathology,  physiopathology
Mitochondria / enzymology,  genetics,  physiology*
Multienzyme Complexes / deficiency*,  genetics
Muscle Cells / cytology,  enzymology,  pathology,  physiology*
Prenatal Diagnosis*
Reg. No./Substance:
0/Codon, Nonsense; 0/Fatty Acids; 0/Multienzyme Complexes; 0/mitochondrial fatty acid beta-oxidation trifunctional protein

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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