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


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.


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

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