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Irish Journal of Medical Science

, Volume 176, Issue 3, pp 189–192 | Cite as

Long chain fatty acid oxidation defects in children: importance of detection and treatment options

  • B. Hayes
  • B. Lynch
  • M. O’Keefe
  • A. A. Monavari
  • E. P. Treacy
Original Article

Abstract

Background

Mitochondrial β oxidation plays a major role in energy production. Long chain fatty acid oxidation defects include deficiency of the trifunctional protein (rare) or more commonly defects of the long chain 3-hydroxy acyl-CoA dehydrogenase enzyme (LCHAD). These long chain defects have variable presentations, they may present in the neonate or infant with sudden death, hepatopathy (Reyes disease), hypoketotic hypoglycaemia, rhabdomyolysis, myopathy, cardiomyopathy and with late complications such as peripheral neuropathy, pigmentary retinopathy, retinal degeneration and progressive visual loss. The correct diagnosis at presentation is not only life saving but also allows for the appropriate dietary and other intervention, which may have major effects on outcome.

Aim

Three case reports of patients with long chain fatty acid oxidation defects who have shown significant benefits from treatment are reported.

Conclusions

These paediatric presentations illustrate the clinical heterogeneity of long chain fatty acid oxidation defects and opportunities for effective management if correctly diagnosed.

Keywords

Cardiomyopathy Hypoketotic hypoglycaemia Myopathy Reyes disease Rhabdomyolysis 

Notes

Acknowledgments

Dr. Eileen Naughten and Dr. G. Fox are thanked for their expert care of these patients.

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Copyright information

© Royal Academy of Medicine in Ireland 2007

Authors and Affiliations

  • B. Hayes
    • 1
  • B. Lynch
    • 1
  • M. O’Keefe
    • 2
  • A. A. Monavari
    • 1
  • E. P. Treacy
    • 1
  1. 1.National Centre for Inherited Metabolic DisordersChildren’s University HospitalDublin 1Ireland
  2. 2.Department of OphthalmologyChildrens’ University HospitalDublin 1Ireland

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