Abstract

VIRU-LOZA, Manuel André. Hypoketotic hypoglycemia due to carnitine deficiency in a child. An. Fac. med. [online]. 2023, vol.84, n.4, pp.471-475.  Epub Dec 30, 2023. ISSN 1025-5583.  http://dx.doi.org/10.15381/anales.v84i4.26211.

During fasting, the oxidation of fatty acids and the formation of ketone bodies are necessary for energy production. Carnitine is essential for long-chain fatty acids to be transferred to the mitochondria for fatty acid oxidation. Primary carnitine deficiency is a recessive defect that is expressed with a broad clinical spectrum that includes metabolic decompensation, hypoketotic hypoglycemia or cardiomyopathy in childhood, fatiguability in adulthood or absence of symptoms. In our country there are no publications on the subject, so this article reports the case of a child who had carnitine deficiency expressed as hypoketotic hypoglycemia and its clinical, biochemical and histopathological findings are analyzed.

Keywords : Hypoglycemia; Carnitine; Metabolism, Inborn Errors; Child.

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