DOI: https://dx.doi.org/10.18203/2349-3291.ijcp20221386
Published: 2022-05-25

A case of short, medium and very-long-chain fatty acid oxidation disorder in a term infant

Jennifer Britto John, Vijayalakshmi Kandasamy, Preethi Shankar, Vinoth Gnana Chellaiyan Devanbu

Abstract


A case of a 2nd born baby to healthy parents with second-degree consanguinity. A term female baby, with APGAR 1 minute and 5 minute-8/10 and 9/10 respectively, developed neonatal jaundice on day 2. On day 4, the baby started to refuse breast milk and was lethargic with poor tone and a weak cry. The baby had hypoglycemia, hypertrophic obstructive cardiomyopathy and diagnosed to have fatty acid oxidation disorder by tandem mass spectrometry, which was later confirmed by genetic testing.


Keywords


Fatty acid β-oxidation, Cardiomyopathy, Hypoketotic hypoglycemia, Carnitine, Fatty acid oxidation disorders

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References


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