EBV infection revealing a long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency in a 3-year-old boy;Infection à EBV révélatrice à l'âge de 3 ans d'un déficit en 3-hydroxyacyl-CoA déshydrogénase des acides gras à chaîne longue (LCHAD)

Archives de Pediatrie

Volumn 18, Issue 1, 2011, Pages 18-22

  Desbree A ^a,b   Houdon, L ^b   Touati, G ^c   Djemili, S ^b   Choker, G ^b   Flodrops, H ^b  

^a HÔPITAL NORD   (France)

^b CHR de la Reunion   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Hypoglyc mie; Maladies m taboliques; Virus d'Epstein Barr

Indexed keywords

3 HYDROXYACYL COENZYME A DEHYDROGENASE; CARNITINE; LONG CHAIN 3 HYDROXYACYL COENZYME A DEHYDROGENASE; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CHILD; COMA; DIET RESTRICTION; DIET SUPPLEMENTATION; ENZYME DEFICIENCY; EPSTEIN BARR VIRUS INFECTION; GENE MUTATION; HOMOZYGOTE; HUMAN; HYPOGLYCEMIC HYPOKETOTIC COMA; LONG CHAIN 3 HYDROXYACYL COENZYME A DEHYDROGENASE DEFICIENCY; MALE; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; PRESCHOOL CHILD; RETINOPATHY; REUNION;

3-HYDROXYACYL COA DEHYDROGENASES; CHILD, PRESCHOOL; DEFICIENCY DISEASES; EPSTEIN-BARR VIRUS INFECTIONS; HUMANS; MALE;

EID: 78650974115     PISSN: 0929693X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.arcped.2010.09.002     Document Type: Article

References (20)

1. De Lonlay P., Djouadi F., Bonnefont J.P., et al. La β-oxydation mitochondriale des acides gras: une voie métabolique essentielle du fonctionnement musculaire. Arch Pediatr 2002, (9 suppl. 2):175-178.
2. Odièvre M.H., Lombés A., Odièvre M. Cytopathies mitochondriales secondaires chez l'enfant: concept récent, concept d'avenir ?. Arch Pediatr 2003, 10:497-498.
3. Wanders R.J., Ijlst L., van Gennip A.H., et al. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid betaoxydation. J Inherit Metab Dis 1990, 13:311-314.
4. Orii K.E., Orii K.O., Souri M., et al. Genes for the human mitochondrial trifonctional protein alpha- and beta-subunits are divergently transcribed from a common promoter region. J Biol Chem 1999, 274:8077-8084.
5. IJlst L., Ruiter J.P., Hoovers J.M., et al. Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene. J Clin Invest 1996, 98:1028-1033.
6. den Boer M.E., Wanders R.J., Morris A.A., et al. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients. Pediatrics 2002, 109:99-104.
7. Tyni T., Palotie A., Viinikka L., et al. Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients. J Pediatr 1997, 130:67-76.
8. Lund A.M., Leonard J.V. Feeding difficulties in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Arch Dis Child 2001, 85:487-488.
9. Tyni T., Paetau A., Strauss A.W., et al. Mitochondrial fatty acid beta-oxidation in the human eye and brain: implications for the retinopathy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Pediatr Res 2004, 56:744-750.
10. Tyni T., Johnson M., Eaton S., et al. Mitochondrial fatty acid beta-oxidation in the retinal pigment epithelium. Pediatr Res 2002, 52:595-600.
11. Schrijver-Wieling I., van Rens G.H., Wittebol-Post D., et al. Retinal dystrophy in long chain 3-hydroxy-acyl-coA dehydrogenase deficiency. Br J Ophthalmol 1997, 81:291-294.
12. Oey N.A., den Boer M.E., Wijburg F.A., et al. Long-chain fatty acid oxidation during early human development. Pediatr Res 2005, 57:755-759.
13. Sims H.F., Brackett J.C., Powell C.K., et al. The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy. Proc Natl Acad Sci U S A 1995, 92:841-845.
14. Ibdah J.A., Dasouki M.J., Strauss A.W. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcaemia. J Inherit Metab Dis 1999, 22:811-814.
15. Strauss A.W., Bennett M.J., Rinaldo P., et al. Inherited long-chain 3-hydroyacyl-CoA dehydrogenase deficiency and a fetal-maternal interaction cause maternal liver disease and other pregnancy complications. Semin Perinatol 1999, 23:100-112.
16. Ibdah J.A., Bennett M.J., Rinaldo P., et al. A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women. N Engl J Med 1999, 340:1723-1731.
17. Sander J., Sander S., Steuerwald U., et al. Neoanatal screening for defects of the mitochondrial trifunctional Protein. Mol Genet Metab 2005, 85:108-114.
18. Hintz S.R., Matern D., Strauss A., et al. Early neonatal deficiencies. Mol Genet Metab 2002, 75:120-127.
19. Brunengraber H., Roe C.R. Anaplerotic molecules: current and future. J Inherit Metab Dis 2006, 29:327-331.
20. Flodrops H., Renouil M., Lesure F., et al. Aspects cliniques et spécificités génétiques de la mucoviscidose à l'île de la Réunion. Arch Pediatr 2003, 10:955-959.