Ann Pediatr Endocrinol Metab.  2016 Dec;21(4):226-229. 10.6065/apem.2016.21.4.226.

Systemic primary carnitine deficiency with hypoglycemic encephalopathy

• Jun JS
• Lee EJ
• Park HD
• Kim HS

• KMID: 2366814
• DOI: http://doi.org/10.6065/apem.2016.21.4.226

Abstract

Acute hypoglycemia in children is not an uncommon disease that can be encountered in the Emergency Department. Most cases of childhood hypoglycemia are caused by ketotic hypoglycemia due to missed meals. Often, hypoketotic hypoglycemia can also occur, which suggests hyperinsulinemia or a defect in fatty acid oxidation. Carnitine is essential for long chain fatty acids transfer into mitochondria for oxidation. We present a case of systemic primary carnitine deficiency who presented with seizures due to hypoketotic hypoglycemia.

Keyword

Hypoglycemia; Encephalopathy; Systemic carnitine deficiency

Figure

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  Fig. 1 Diffusion weighted image shows swollen, markedly hyperintense white matter in the parietal, occipital lobes.

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  Fig. 2 Analysis of SLC22A5 identified the c.396G>A(p.W132X) and c.539A>C(p.Q180P) variations. The c.396G>A(p.W132X) is a known mutation but c.539A>C(p.Q180P) is a novel variation. Her mother’s DNA showed c.396G>A(p.W132X) heterozygote without c.539A>C(p.Q180P). Her younger sister’s DNA study shows no variations.

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