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. 2016 Dec;21(4):226-229.
doi: 10.6065/apem.2016.21.4.226. Epub 2016 Dec 31.

Systemic primary carnitine deficiency with hypoglycemic encephalopathy

Jae Sung Jun  1 , Eun Joo Lee  2 , Hyung Doo Park  3 , Hae Sook Kim  1
Affiliations

Systemic primary carnitine deficiency with hypoglycemic encephalopathy

Jae Sung Jun et al. Ann Pediatr Endocrinol Metab. 2016 Dec.

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.

Keywords: Encephalopathy; Hypoglycemia; Systemic carnitine deficiency.

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Conflict of interest statement

No potential conflict of interest relevant to this article was reported.

Figures

Fig. 1
Fig. 1. Diffusion weighted image shows swollen, markedly hyperintense white matter in the parietal, occipital lobes.
Fig. 2
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.
See this image and copyright information in PMC

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