European Journal of Pediatrics

, Volume 153, Issue 10, pp 745–750 | Cite as

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A severe fatty acid oxidation disorder

  • A. C. Sewell
  • S. W. Bender
  • S. Wirth
  • H. Münterfering
  • L. Ijlist
  • R. J. A. Wanders
Metabolic Diseases Original Paper


3-Hydroxyacyl-CoA dehydrogenase deficiency is a newly recognised fatty acid oxidation disorder with a usually fatal outcome. We present a further patient who presented with hypoketotic hypoglycaemia, hepatopathy, secondary carnitine deficiency and increased plasma long-chain acylcarnitines. 3-Hydroxydicarboxylic aciduria was present and the diagnosis confirmed in cultured skin fibroblasts. Our patient is compared with those reported in the literature with respect to clinical symptoms, differential diagnosis and possible therapeutic regimens.

Key words

Fatty acid oxidation Cardiomyopathy Hypoketotic hypoglycaemia 3-Hydroxyacyl-CoA dehydrogenase deficiency 



co-enzyme A


long-chain acyl-CoA dehydrogenase


long-chain hydroxyacyl-CoA dehydrogenase


medium-chain acyl-CoA dehydrogenase


medium-chain triglycerides


short-chain acyl-CoA dehydrogenase


very long-chain acyl-CoA dehydrogenase


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Copyright information

© Springer-Verlag 1994

Authors and Affiliations

  • A. C. Sewell
    • 1
  • S. W. Bender
    • 2
  • S. Wirth
    • 3
  • H. Münterfering
    • 4
  • L. Ijlist
    • 5
  • R. J. A. Wanders
    • 5
  1. 1.Department of PaediatricsUniversity Children's Hospital FrankfurtFrankfurt am MainGermany
  2. 2.Department of PaediatricsClinic for DiagnosticsWiesbadenGermany
  3. 3.Department of PaediatricsUniversity Children's HospitalMainzGermany
  4. 4.Department of Paediatric PathologyUniversity of MainzMainzGermany
  5. 5.Department of Paediatrics and Clinical ChemistryUniversity Children's HospitalAmsterdamThe Netherlands

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