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Infant with hepatomegaly and hypoglycemia: A setting for fatty acid oxidation defects

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Abstract

Fatty acid oxidation defects (FAOD) are one of the commonest metabolic liver diseases (MLDs) that can have varied presentations in different age groups. An infant presented with short history of jaundice and irritability, examination showed soft hepatomegaly. Investigations revealed non-ketotic hypoglycemia suggesting FAOD which was later confirmed as carnitine uptake defect with gas chromatography and mass spectrometry and mutation analysis. Patient improved with acute management of metabolic crisis, carnitine supplementation and corn starch therapy with reversal of encephalopathy, reduction in hepatomegaly, maintenance of euglycemia and improvement in liver function tests and creatine phosphokinase on follow up. Non-ketotic hypoglycemia is a characteristic finding in FAODs. Early diagnosis and appropriate management can result in excellent outcomes in patients with FAODs.

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Authors and Affiliations

  1. Department of Pediatric Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, 226 014, India

    Aathira Ravindranath, Gautham Pai, Anshu Srivastava, Ujjal Poddar & Surender Kumar Yachha

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  1. Aathira Ravindranath
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  2. Gautham Pai
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  3. Anshu Srivastava
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  4. Ujjal Poddar
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  5. Surender Kumar Yachha
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Correspondence to Anshu Srivastava.

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Ravindranath, A., Pai, G., Srivastava, A. et al. Infant with hepatomegaly and hypoglycemia: A setting for fatty acid oxidation defects. Indian J Gastroenterol 36, 429–434 (2017). https://doi.org/10.1007/s12664-017-0790-0

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  • DOI: https://doi.org/10.1007/s12664-017-0790-0

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