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Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency—diagnosis, plasma carnitine fractions and management in a further patient

  • Metabolic Diseases
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Abstract

Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD), the third enzyme of the mitochondrial β-oxidation pathway, carries out the dehydrogenation of 3-hydroxyacyl-CoA compounds of 12–18 carbon length. To date only nine cases of LCHAD deficiency have been documented. We report a further patient who as a neonate developed non-specific gastro-intestinal symptoms and at 5 months of age cardiomyopathy, recurrent hypoketotic hypoglycaemia and gross alterations of plasma carnitine fractions. Dietary management with medium chain triglycerides led rapidly to clinical improvement. There was a close correlation between the clinical condition, plasma carnitine fractions and cardiac function. At 2 years of age she is developing normally.

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Abbreviations

LCHAD:

long-chain 3-hydroxyacyl-coenzyme A dehydrogenase

MCT:

medium chain triglycerides

LVSF:

left ventricular shortening fraction

LCT:

long chain triglyceride

DCA:

dicarboxylic acids

3OH DCA:

3-hydroxy dicarboxylic acids

3OH MCA:

3-hydroxy monocarboxylic acids

FC:

free carnitine

LCC:

long-chain acyl carnitine

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Authors and Affiliations

  1. Department of Child Health, The Queen's University of Belfast, Institute of Clinical Science, Grosvenor Road, BT12 6BJ, Belfast, Northern Ireland

    R. Moore, J. F. T. Glasgow, M. A. Bingham & J. A. Dodge

  2. Regional Neonatal Screening Laboratory, Stephenson Unit, The Children's Hospital, S10 2TH, Sheffield, UK

    R. J. Pollitt & S. E. Olpin

  3. Department of Biochemistry, The Medical School, Queen's Medical Centre, NG7 2UH, Nottingham, UK

    B. Middleton & K. Carpenter

Authors
  1. R. Moore
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  2. J. F. T. Glasgow
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  3. M. A. Bingham
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  4. J. A. Dodge
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  5. R. J. Pollitt
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  6. S. E. Olpin
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  7. B. Middleton
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  8. K. Carpenter
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Moore, R., Glasgow, J.F.T., Bingham, M.A. et al. Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency—diagnosis, plasma carnitine fractions and management in a further patient. Eur J Pediatr 152, 433–436 (1993). https://doi.org/10.1007/BF01955905

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  • DOI: https://doi.org/10.1007/BF01955905

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