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Adult presentations of medium-chain acyl-CoA dehydrogenase deficiency (MCADD)

  • REVIEW
  • Published:
Journal of Inherited Metabolic Disease

Summary

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive disorder of mitochondrial fatty acid oxidation which is usually diagnosed in infancy or through neonatal screening. In the absence of population screening, adults with undiagnosed MCADD can be expected. This review discusses 14 cases that were identified during adulthood. The mortality of infantile patients is approximately 25% whereas in this adult case series it was shown it to be 50% in acutely presenting patients and 29% in total. Therefore, undiagnosed individuals are at risk of sudden fatal metabolic decompensation with high mortality. This review illustrates the need to consider the possibility of a fatty acid oxidation defect in an adult who presents with unexplained sudden clinical deterioration, particularly if precipitated by fasting or alcohol consumption. A history of unexplained sibling death may also raise the index of suspicion. There also needs to be appropriate clinical support for those patients identified clinically or as a result of family studies (sibling or parent).

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Abbreviations

AFLP:

acute fatty liver of pregnancy

CPT I:

carnitine palmitoyltransferase I

CPT II:

carnitine palmitoyltransferase II

HELLP:

syndrome of haemolysis, elevated liver enzymes, and low platelets

LCHAD:

long-chain hydroxy-CoA dehydrogenase deficiency

MADD:

multiple acyl-CoA dehydrogenase deficiency

MCADD:

medium chain acyl-CoA dehydrogenase deficiency

MTP:

mitochondrial trifunctional protein deficiency

VLCAD:

very long chain acyl-CoA dehydrogenase deficiency

VPA:

valproate

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Acknowledgements

The author acknowledges the helpful advice from Dr Simon Olpin in preparing this review and of Dr Brian Shine with the statistics. The author also acknowledges the updates of live cases provided by the relevant authors.

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Authors and Affiliations

  1. Department of Clinical Biochemistry, Royal Victoria Hospital, Grosvenor Road, Belfast, BT12 6BA, Northern Ireland, UK

    T. F. Lang

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  1. T. F. Lang
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Correspondence to T. F. Lang.

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Communicating editor: Michael Bennett

Competing interests: None declared

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Lang, T.F. Adult presentations of medium-chain acyl-CoA dehydrogenase deficiency (MCADD). J Inherit Metab Dis 32, 675–683 (2009). https://doi.org/10.1007/s10545-009-1202-0

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