Journal of Inherited Metabolic Disease

, Volume 17, Issue 2, pp 185–188 | Cite as

Long-chain 3-hydroxyacyl-CoA dehydrogenase in chorionic villi, fetal liver and fibroblasts and prenatal diagnosis of 3-hydroxyacyl-CoA dehydrogenase deficiency

  • U. von Döbeln
  • N. Venizelos
  • M. Westgren
  • L. Hagenfeldt
Article

Summary

Prenatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency was performed by analysis of the enzyme activity in a chorionic villus biopsy obtained in the 10th week of pregnancy. The diagnosis was confirmed in liver tissue and cultured fibroblasts from the aborted fetus.

Keywords

Public Health Enzyme Activity Internal Medicine Liver Tissue Prenatal Diagnosis 

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References

  1. Bertini E, Dionisi-Vici C, Garavaglia B et al (1992) Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency.Eur J Pediatr 151: 121–126.Google Scholar
  2. Hagenfeldt L, von Döbeln U, Holme E et al (1990) 3-Hydroxydicarboxylic aciduria — a fatty acid oxidation defect with severe prognosis.J Pediatr 116: 387–392.Google Scholar
  3. Olpin SE, Manning NJ, Carpenter K, Middleton B, Pollitt RJ (1992) Differential diagnosis of hydroxydicarboxylic aciduria based on release of3H2O from (9,10-3H-myristic and (9,10-3H)palmitic acids by intact cultured fibroblasts.J Inher Metab Dis 15: 883–890.Google Scholar
  4. Pérez-Cerdá C, Merinero B, Jiménez A et al (1993) First report of prenatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in a pregnancy at risk.Prenat Diagn 13: 529–533.Google Scholar
  5. Pollitt RJ, Losty H, Westwood A (1987) 3-Hydroxydicarboxylic aciduria: a distinctive type of intermittent dicarboxylic aciduria of possible diagnostic significance.J Inher Metab Dis 2: 266–269.Google Scholar
  6. Przyrembel H, Jakobs C, IJlst L, de Klerk JBC, Wanders RJA (1991) Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.J Inher Metab Dis 14: 674–680.Google Scholar
  7. fsRocchioccioli F, Wanders RJA, Aubourg P et al (1990) Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: a cause of lethal myopathy and cardiomyopathy in early childhood.Pediatr Res 28: 657–662.Google Scholar
  8. Venizelos N, IJlst L, Wanders RJA, Hagenfeldt L (1994) Beta oxidation enzymes in fibroblasts from patients with 3-hydroxydicarboxylic aciduria.Pediatr Res, in press.Google Scholar
  9. Wanders RJA, IJlst L, van Gennip AH et al (1990) Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid β-oxidation.J Inher Metab Dis 13: 311–314.Google Scholar
  10. Wanders RJA, IJlst L (1992) Long-chain 3-hydroxyacyl-CoA dehydrogenase in leukocytes and chorionic villus fibroblasts: potential for pre- and postnatal diagnosis.J Inher Metab Dis 15: 356–358.Google Scholar
  11. Wilcken B, Leung K-C, Hammond J et al (1993) Pregnancy and fetal long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency.Lancet 341: 407–408.Google Scholar

Copyright information

© SSIEM and Kluwer Academic Publishers 1994

Authors and Affiliations

  • U. von Döbeln
    • 1
  • N. Venizelos
    • 1
  • M. Westgren
    • 2
  • L. Hagenfeldt
    • 1
  1. 1.Department of Clinical Chemistry, Karolinska InstituteHuddinge University HospitalHuddingeSweden
  2. 2.Department of Obstetrics and Gynaecology, Karolinska InstituteHuddinge University HospitalHuddingeSweden

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