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Very long-chain acyl-CoA dehydrogenase deficiency in an infant presenting with massive hepatomegaly

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Journal of Inherited Metabolic Disease

Abstract

A 9-month-old boy with presented generalised hypotonia, severe cardiomyopathy, and massive liver enlargement following 10 days of viral gastroenteritis. He was diagnosed with very long-chain acyl-CoA dehydrogenase deficiency and has been successfully treated.

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Authors and Affiliations

  1. Division of Medical Genetics, Childrens Hospital Los Angeles, USA

    R. G. Boles

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  1. R. G. Boles
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Correspondence to R. G. Boles.

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Boles, R.G. Very long-chain acyl-CoA dehydrogenase deficiency in an infant presenting with massive hepatomegaly. J Inherit Metab Dis 25, 316–315 (2002). https://doi.org/10.1023/A:1016554409214

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  • DOI: https://doi.org/10.1023/A:1016554409214

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